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See other ADH1B GT Assays ›
SNP ID:
rs1229984
Gene
ADH1B
Gene Name
Set Membership:
> HapMap > DME > Validated > Inventoried
Chromosome Location:
Chr.4: 99318162 - 99318162 on Build GRCh38
Polymorphism:
C/T, Transition substitution
Context Sequence [VIC/FAM]:

GCCACTAACCACGTGGTCATCTGTG[C/T]GACAGATTCCTACAGCCACCATCTA

Assay ID C___2688467_20
Size VIC-FAM | 150 rxns
Availability Inventoried
Catalog # 4362691
Price
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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

 MIM: 103720

Literature Links:

 ADH1B PubMed Links

Allele Nomenclature:

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
A (0.16)
(0.84)
Caucasian
T (0.06)
(0.94)
CEPH (CEU)
A (0.01)
(0.99)
EAS
G (0.30)
(0.70)
African American
T (0.00)
(1.00)
YRI (Yoruba) - Not Available
SAS
A (0.02)
(0.98)
Japanese
C (0.14)
(0.86)
JPT (Japanese)
G (0.26)
(0.74)
AFR
A (0.00)
(1.00)
Chinese
C (0.31)
(0.69)
CHB (Han Chinese)
G (0.23)
(0.77)
EUR
A (0.03)
(0.97)
AMR
A (0.06)
(0.94)
ADH1B - alcohol dehydrogenase 1B (class I), beta polypeptide
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_000668.5 376 Missense Mutation CAC,CGC H,R 48 NP_000659.2
NM_001286650.1 376 Missense Mutation CAC,CGC H,R 8 NP_001273579.1

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More Information


Set Membership:

 HapMap DME Validated Inventoried

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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