Product Details

SNP ID

rs142486322

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:178465872 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATATCTTCTAAAACTGCATCCTG[A/G]TATGACTTGTCACGTGGCTTCTCAT

Phenotype

MIM: 610219 MIM: 607062

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DFNB59 PubMed Links

Gene Details

Gene

DFNB59

Gene Name

deafness, autosomal recessive 59

There are no transcripts associated with this gene.

Gene

FKBP7

Gene Name

FK506 binding protein 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135212.1	1812	Silent Mutation	TAC,TAT	Y188Y	NP_001128684.1
NM_181342.2	1812	Silent Mutation	TAC,TAT	Y189Y	NP_851939.1
XM_005246638.4	1812	UTR 3			XP_005246695.1
XM_011511348.2	1812	Silent Mutation	TAC,TAT	Y82Y	XP_011509650.1
XM_011511349.2	1812	Silent Mutation	TAC,TAT	Y81Y	XP_011509651.1

View Full Product Details