Product Details

SNP ID

rs200587705

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:147908311 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGGAGGAGCTGGGCCAGCAGGCGG[A/G]GACTAACGGCGGCCCGGACCAGGGC

Phenotype

MIM: 600897

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GJA8 PubMed Links

Gene Details

Gene

GJA8

Gene Name

gap junction protein alpha 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005267.4	1156	Missense Mutation	GAG,GGG	E119G	NP_005258.2
XM_011509416.1	1156	Missense Mutation	GAG,GGG	E119G	XP_011507718.1
XM_011509417.1	1156	Missense Mutation	GAG,GGG	E119G	XP_011507719.1

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