Product Details

SNP ID

rs35002004

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:20222992 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAATCCCACATTTCAACACCCAGGG[C/T]AGGTGGTACCCATTGTAAAGGAAGT

Phenotype

MIM: 604418

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GJB6 PubMed Links

Gene Details

Gene

GJB6

Gene Name

gap junction protein beta 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001110219.2	802	Silent Mutation	CTA,CTG	L163L	NP_001103689.1
NM_001110220.2	802	Silent Mutation	CTA,CTG	L163L	NP_001103690.1
NM_001110221.2	802	Silent Mutation	CTA,CTG	L163L	NP_001103691.1
NM_006783.4	802	Silent Mutation	CTA,CTG	L163L	NP_006774.2
XM_017020357.1	802	Silent Mutation	CTA,CTG	L163L	XP_016875846.1
XM_017020358.1	802	Silent Mutation	CTA,CTG	L163L	XP_016875847.1
XM_017020359.1	802	Silent Mutation	CTA,CTG	L163L	XP_016875848.1
XM_017020360.1	802	Silent Mutation	CTA,CTG	L163L	XP_016875849.1

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