Product Details

SNP ID

rs144062423

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:38395912 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGCAGTCAGCAAGAAGACCTTCC[C/T]GACGGTCAACCCTACCACCGGGGAG

Phenotype

MIM: 100670

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ALDH1B1 PubMed Links

Gene Details

Gene

ALDH1B1

Gene Name

aldehyde dehydrogenase 1 family member B1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000692.4	317	Missense Mutation	CCG,CTG	P55L	NP_000683.3
XM_011517802.2	317	Missense Mutation	CCG,CTG	P55L	XP_011516104.1

View Full Product Details