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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: 26123995-26124256 on Build GRCh38 View in UCSC browser
- Amplicon Length
- 262
- 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 | 3359666 | c.172G>A | p.D58N |
| 2202806 | c.205G>T | p.D69Y | |||
| 5458358 | c.127-1G>A | p.? | |||
| 2202808 | c.167G>T | p.R56I | |||
| 1360972 | c.157G>T | p.E53* | |||
| 938202 | c.170G>A | p.R57K | |||
| 3720970 | c.157G>A | p.E53K | |||
| 2202809 | c.144G>A | p.P48P | |||
| 938203 | c.146A>G | p.H49R | |||
| 7302938 | c.158A>T | p.E53V | |||
| 7082210 | c.201G>A | p.L67L | |||
| 329658 | c.165_169delAAGAA | p.R57fs*3 | |||
| GenBank | AB044088.1 | BAB21502.1 | - | - | - |
| AK303677.1 | - | - | - | ||
| 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
rs777305928rs765511964rs950204724rs756941879rs752987612rs369498804rs538519595rs750255371rs755184861rs370455858rs766265352rs931905067rs1023218450rs777330290rs771218727rs527575305rs755902755rs778388881rs1054868339rs200957247rs767352296rs373921384rs773611743rs778490964rs1871557rs756068658rs202094138rs753796704rs765418587rs747801913rs761238713rs747381978rs771686924rs766852193rs779909577rs776829500rs747354885rs759636418rs751833997rs763235651rs1017603532Submission count
NAAllele Nomenclature
Chromosome Location
Chr.12: 26124172-26124172 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: 26124040-26124040 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: 26124043-26124043 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: 26124049-26124049 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: 26124042-26124042 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: 26124035-26124035 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: 26124213-26124213 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: 26124060-26124060 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: 26124226-26124227 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: 26124147-26124147 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: 26124201-26124201 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: 26124174-26124174 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: 26124067-26124067 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: 26124214-26124214 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: 26124220-26124220 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: 26124078-26124078 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: 26124198-26124198 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: 26124208-26124208 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: 26124108-26124108 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: 26124151-26124151 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: 26124055-26124055 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: 26124057-26124057 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: 26124118-26124118 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: 26124086-26124086 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: 26124196-26124196 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: 26124061-26124061 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: 26124065-26124065 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: 26124207-26124207 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: 26124189-26124189 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: 26124090-26124090 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: 26124024-26124024 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: 26124132-26124132 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: 26124107-26124107 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: 26124027-26124027 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: 26124064-26124064 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: 26124030-26124030 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: 26124218-26124218 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: 26124187-26124187 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: 26124026-26124027 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: 26124195-26124195 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: 26124051-26124051 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 |
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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
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