Product Details

SNP ID

rs202041458

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:147907977 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAAATGGGCGACTGGAGTTTCCTG[A/G]GGAACATCTTGGAGGAGGTGAATGA

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	822	Missense Mutation	AGG,GGG	R8G	NP_005258.2
XM_011509416.1	822	Missense Mutation	AGG,GGG	R8G	XP_011507718.1
XM_011509417.1	822	Missense Mutation	AGG,GGG	R8G	XP_011507719.1

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