Product Details

SNP ID

rs200878798

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:178460431 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCACTGCTGTACAGGTTGAGAAAT[A/G]TCCTATTTGAAAGAAGTATGTTTAT

Phenotype

MIM: 610219 MIM: 607062 MIM: 603424

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DFNB59 PubMed Links

Gene Details

Gene

DFNB59

Gene Name

deafness, autosomal recessive 59

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042702.3	1478	Missense Mutation	ATC,GTC	I251V	NP_001036167.1
XM_005246627.2	1478	Missense Mutation	ATC,GTC	I254V	XP_005246684.1
XM_005246628.3	1478	Intron			XP_005246685.1
XM_005246629.3	1478	Missense Mutation	ATC,GTC	I248V	XP_005246686.1
XM_011511247.2	1478	Intron			XP_011509549.1
XM_011511249.2	1478	Missense Mutation	ATC,GTC	I92V	XP_011509551.1
XM_011511250.2	1478	Missense Mutation	ATC,GTC	I92V	XP_011509552.1
XM_011511251.1	1478	Missense Mutation	ATC,GTC	I92V	XP_011509553.1
XM_017004221.1	1478	Missense Mutation	ATC,GTC	I286V	XP_016859710.1
XM_017004222.1	1478	Missense Mutation	ATC,GTC	I92V	XP_016859711.1
XM_017004223.1	1478	Missense Mutation	ATC,GTC	I92V	XP_016859712.1
XM_017004224.1	1478	Missense Mutation	ATC,GTC	I92V	XP_016859713.1
XM_017004225.1	1478	Missense Mutation	ATC,GTC	I92V	XP_016859714.1

Gene

FKBP7

Gene Name

FK506 binding protein 7

There are no transcripts associated with this gene.

Gene

PRKRA

Gene Name

protein activator of interferon induced protein kinase EIF2AK2

There are no transcripts associated with this gene.

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