Product Details

SNP ID

rs41266431

Assay Type

Functionally tested

NCBI dbSNP Submissions

37

Location

Chr.1:34794601 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGGTGGAGCGGGCGCTGGCGGCC[A/G]TAGAGCGTCAGATGGCCAAGATCTC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002060.2	645	Missense Mutation	ATA,GTA	I130V	NP_002051.2
XM_005270750.2	645	Missense Mutation	ATA,GTA	I130V	XP_005270807.1
XM_017001043.1	645	Missense Mutation	ATA,GTA	I130V	XP_016856532.1

Gene

GJB3

Gene Name

gap junction protein beta 3

There are no transcripts associated with this gene.

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