Product Details

SNP ID: rs146916223
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.7:151048979 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTGCTCGATGCACGGGCTGGGCCAC[A/G]TCTTCGGGCCAGGCAGCCTGAGCCT
Phenotype: MIM: 605464 MIM: 611741 MIM: 123831 MIM: 109280
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: ABCB8 PubMed Links

Gene Details

Gene: ABCB8
Gene Name: ATP binding cassette subfamily B member 8

There are no transcripts associated with this gene.

Gene: ASIC3
Gene Name: acid sensing ion channel subunit 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004769.3	688	Missense Mutation	ATC,GTC	I32V	NP_004760.1
NM_020321.3	688	Missense Mutation	ATC,GTC	I32V	NP_064717.1
NM_020322.3	688	Missense Mutation	ATC,GTC	I32V	NP_064718.1

Gene: CDK5
Gene Name: cyclin dependent kinase 5

There are no transcripts associated with this gene.

Gene: SLC4A2
Gene Name: solute carrier family 4 member 2

There are no transcripts associated with this gene.

View Full Product Details