Product Details

SNP ID

rs121434643

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:147908094 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACGGCCGCAGAGTTCGTGTGGGGG[A/G]ATGAGCAATCCGACTTCGTGTGCAA

Phenotype

MIM: 600897

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GJA8 PubMed Links

Gene Details

Gene

GJA8

Gene Name

gap junction protein alpha 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005267.4	939	Missense Mutation	AAT,GAT	N47D	NP_005258.2
XM_011509416.1	939	Missense Mutation	AAT,GAT	N47D	XP_011507718.1
XM_011509417.1	939	Missense Mutation	AAT,GAT	N47D	XP_011507719.1

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