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- Gene Symbol:
-
BHLHE41SSPN - Entrez Gene ID
- 79365
- 8082
- Gene Name:
- basic helix-loop-helix family member e41
- sarcospan
- Gene Aliases
- BHLHB3, DEC2, SHARP1, hDEC2
- DAGA5, KRAG, NSPN, SPN1, SPN2
- Gene Chromosome Location
- Chr.12: on Build GRCh38
- Chr.12: on Build GRCh38
- UniGene
- Hs.177841
- Hs.183428
- Species:
- Human
- Primer Chromosome Location
- Chr.12: 26122852-26123107 on Build GRCh38 View in UCSC browser
- Amplicon Length
- 256
- Primer Sequences
- Log in to view
- Ampliseq ID's
Genomic Map
Back To TopAssay Details
Gene Information
| BHLHE41 | |||||
|---|---|---|---|---|---|
| Accession | Protein | COSMIC ID | Mutation | AA | |
| RefSeq | NM_030762.2 | NP_110389.1 | 7357492 | c.632T>C | p.L211P |
| 6502640 | c.441C>T | p.S147S | |||
| 3811718 | c.556C>G | p.L186V | |||
| 4792629 | c.434A>T | p.Y145F | |||
| 3811719 | c.553C>A | p.P185T | |||
| 4951850 | c.628A>G | p.K210E | |||
| 1660773 | c.437T>A | p.L146H | |||
| 7192813 | c.534G>A | p.Q178Q | |||
| 4438637 | c.575_576insGC | p.P193fs*89 | |||
| 3416737 | c.421G>T | p.E141* | |||
| 7210984 | c.415G>A | p.A139T | |||
| 5498584 | c.527C>T | p.T176I | |||
| 288186 | c.436C>T | p.L146F | |||
| GenBank | AB044088.1 | BAB21502.1 | - | - | - |
| AK303677.1 | - | - | - | ||
| AK311258.1 | - | - | - | ||
| AY665466.1 | AAV54601.1 | - | - | - | |
| AY665467.1 | AAV54602.1 | - | - | - | |
| BC025968.1 | AAH25968.1 | - | - | - | |
| ENST00000242728.0 | - | - | - | ||
Phenotype
| SSPN | |||||
|---|---|---|---|---|---|
| Accession | Protein | COSMIC ID | Mutation | AA | |
| RefSeq | XM_011520853.2 | XP_011519155.1 | - | - | - |
Phenotype
Literature Links: |
BHLHE41 PubMed Links |
SNP ID
rs372622178rs1037877138rs61754129rs368690498rs908884988rs545506271rs367795337rs747865841rs746027394rs999959119rs983554553rs976989317rs746096185rs886684853rs758835455rs936454925rs116430907rs774365575rs776355718rs200886903rs756277807rs746947178rs866918892rs781258261rs940889368rs1024843654rs748033209rs764541939rs752977997rs918865287rs958397913rs148883856rs1018429890rs371836958rs199919168rs752085955rs574280556rs1032425202rs867494245rs866389633rs772273273rs902511018rs544770656rs138601663rs376777918rs575264913rs369659505rs773324416Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122941-26122941 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123077-26123077 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122894-26122894 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122933-26122933 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122970-26122970 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123007-26123007 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123012-26123012 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123075-26123075 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123055-26123055 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122873-26122873 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122969-26122969 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122935-26122935 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122907-26122907 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123044-26123044 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122981-26122981 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122944-26122944 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123031-26123031 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122991-26122991 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122963-26122963 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123080-26123080 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123061-26123061 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123086-26123086 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122967-26122967 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123043-26123043 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123050-26123050 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122893-26122893 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122949-26122949 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123006-26123006 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122980-26122980 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122937-26122937 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122891-26122891 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123083-26123083 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122900-26122900 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122876-26122876 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122965-26122965 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123024-26123024 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122942-26122942 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122883-26122883 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122968-26122968 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122986-26122986 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123068-26123068 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122870-26122870 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122955-26122955 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123048-26123048 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122959-26122959 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26123003-26123003 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122954-26122954 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26122950-26122950 on Build GRCh38Allele Frequency
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
Back To TopMore Information
Set Membership: |
Between 200-400 bp
|
Panther Classification:
Gene Ontology Categories:
Function(s)
Process(es)
negative regulation of transcription from RNA polymerase II promoter
transcription, DNA-templated
cell proliferation
organ morphogenesis
negative regulation of myotube differentiation
negative regulation of transcription by competitive promoter binding
cell differentiation
circadian regulation of gene expression
negative regulation of transcription, DNA-templated
muscle contraction
cell adhesion
RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
RNA polymerase II activating transcription factor binding
transcriptional repressor activity, RNA polymerase II transcription factor binding
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
transcription corepressor activity
protein binding
protein homodimerization activity
histone deacetylase binding
bHLH transcription factor binding
MRF binding
protein heterodimerization activity
E-box binding
negative regulation of transcription from RNA polymerase II promoter
transcription, DNA-templated
cell proliferation
organ morphogenesis
negative regulation of myotube differentiation
negative regulation of transcription by competitive promoter binding
cell differentiation
circadian regulation of gene expression
negative regulation of transcription, DNA-templated
muscle contraction
cell adhesion
RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding
RNA polymerase II activating transcription factor binding
transcriptional repressor activity, RNA polymerase II transcription factor binding
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
transcription corepressor activity
protein binding
protein homodimerization activity
histone deacetylase binding
bHLH transcription factor binding
MRF binding
protein heterodimerization activity
E-box binding
Format:
Each primer will be delivered in a single tube, dried-down
Quick Reference Guide
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