Product Details

SNP ID

rs189666922

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:34794460 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCCGCTACTGGGTGCTGCAGTTC[C/T]TCTTCGTCAGCACACCCACCCTGGT

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002060.2	504	Missense Mutation	CTC,TTC	L83F	NP_002051.2
XM_005270750.2	504	Missense Mutation	CTC,TTC	L83F	XP_005270807.1
XM_017001043.1	504	Missense Mutation	CTC,TTC	L83F	XP_016856532.1

Gene

GJB3

Gene Name

gap junction protein beta 3

There are no transcripts associated with this gene.

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