Product Details

SNP ID

rs140122519

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:178469767 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATCTCAAAAATCAATGTAGCATCC[A/G]GTGGAATCTTGCCTTCTGCTAAGGG

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	521	Missense Mutation	CCG,CTG	P130L	NP_001128684.1
NM_181342.2	521	Missense Mutation	CCG,CTG	P131L	NP_851939.1
XM_005246638.4	521	Intron			XP_005246695.1
XM_011511348.2	521	Missense Mutation	CCG,CTG	P24L	XP_011509650.1
XM_011511349.2	521	Missense Mutation	CCG,CTG	P23L	XP_011509651.1

View Full Product Details