Product Details

SNP ID

rs74315315

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:34784796 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGACACTCCAGGCCCTACTGAGC[C/G]GTGTGAACAAGTACTCCACAGCGTT

Phenotype

MIM: 121012 MIM: 603324

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GJA4 PubMed Links

Gene Details

Gene

GJA4

Gene Name

gap junction protein alpha 4

There are no transcripts associated with this gene.

Gene

GJB3

Gene Name

gap junction protein beta 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005752.1	649	Missense Mutation	CGT,GGT	R12G	NP_001005752.1
NM_024009.2	649	Missense Mutation	CGT,GGT	R12G	NP_076872.1

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