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- SNP ID:
- rs58542926
- Gene
-
HAPLN4SUGP1TM6SF2 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.19: 19268740 - 19268740 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
GTGAGGAAGAAGGCAGGCCTGATCT[C/T]GGAGCTGTATTTGCCTTCCATGGTG
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 607992
MIM: 606563
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Literature Links: |
HAPLN4 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele 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
|
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AMR
|
| HAPLN4 - hyaluronan and proteoglycan link protein 4 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| SUGP1 - SURP and G-patch domain containing 1 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| TM6SF2 - transmembrane 6 superfamily member 2 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001001524.2 | 549 | Missense Mutation | AAG,GAG | K,E 167 | NP_001001524.2 | |
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