Product Details

SNP ID

rs201314683

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:34785055 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGTCATCCTGCACGTGGCCTACC[A/G]TGAGGAGCGGGAGCGCCGGCACCGC

Phenotype

MIM: 121012 MIM: 603324

Polymorphism

A/G, Transition 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	908	Missense Mutation	CAT,CGT	H98R	NP_001005752.1
NM_024009.2	908	Missense Mutation	CAT,CGT	H98R	NP_076872.1

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