Product Details

SNP ID

rs145247495

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:34784826 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAACAAGTACTCCACAGCGTTCGGG[C/T]GCATCTGGCTGTCCGTGGTGTTCGT

Phenotype

MIM: 121012 MIM: 603324

Polymorphism

C/T, 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	679	Missense Mutation	CGC,TGC	R22C	NP_001005752.1
NM_024009.2	679	Missense Mutation	CGC,TGC	R22C	NP_076872.1

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