Product Details

SNP ID

rs11841182

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.13:20187704 on Build GRCh38

Set Membership

Validated

Context Sequence [VIC/FAM]

TTCAATCTTCCTATAGATCTGCTCA[A/T]TATTTATCTAAACCTTAGCTTCTAT

Phenotype

MIM: 121011

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

GJB2 PubMed Links

Gene Details

Gene

GJB2

Gene Name

gap junction protein beta 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004004.5	2084	UTR 3			NP_003995.2
XM_011535049.2	2084	UTR 3			XP_011533351.1

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