Product Details

SNP ID

rs141478382

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:178469732 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGCTCCGTGGTCCTTTGGTCACAG[A/C]ATAAAGTTCAATCTCAAAAATCAAT

Phenotype

MIM: 610219 MIM: 607062

Polymorphism

A/C, Transversion 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	556	Missense Mutation	GCT,TCT	A142S	NP_001128684.1
NM_181342.2	556	Missense Mutation	GCT,TCT	A143S	NP_851939.1
XM_005246638.4	556	Intron			XP_005246695.1
XM_011511348.2	556	Missense Mutation	GCT,TCT	A36S	XP_011509650.1
XM_011511349.2	556	Missense Mutation	GCT,TCT	A35S	XP_011509651.1

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