Product Details

SNP ID

rs2280961

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:71215786 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGGCTGCAGAGGGCTAGCCAACAGG[A/G]CCAAGGATTTGGGAGCGTGTGTTTC

Phenotype

MIM: 304040

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GJB1 PubMed Links

Gene Details

Gene

GJB1

Gene Name

gap junction protein beta 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000166.5		Intron			NP_000157.1
NM_001097642.2		Intron			NP_001091111.1
XM_011530907.2		Intron			XP_011529209.1
XM_017029408.1		Intron			XP_016884897.1

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