Product Details

SNP ID

rs199693434

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:178460396 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGGAGGATTTGAAAGGGAAGAAA[C/T]GGCAACATTTGCACTGCTGTACAGG

Phenotype

MIM: 610219 MIM: 607062 MIM: 603424

Polymorphism

C/T, 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	1443	Missense Mutation	ACG,ATG	T239M	NP_001036167.1
XM_005246627.2	1443	Missense Mutation	ACG,ATG	T242M	XP_005246684.1
XM_005246628.3	1443	Intron			XP_005246685.1
XM_005246629.3	1443	Missense Mutation	ACG,ATG	T236M	XP_005246686.1
XM_011511247.2	1443	Missense Mutation	ACG,ATG	T274M	XP_011509549.1
XM_011511249.2	1443	Missense Mutation	ACG,ATG	T80M	XP_011509551.1
XM_011511250.2	1443	Missense Mutation	ACG,ATG	T80M	XP_011509552.1
XM_011511251.1	1443	Missense Mutation	ACG,ATG	T80M	XP_011509553.1
XM_017004221.1	1443	Missense Mutation	ACG,ATG	T274M	XP_016859710.1
XM_017004222.1	1443	Missense Mutation	ACG,ATG	T80M	XP_016859711.1
XM_017004223.1	1443	Missense Mutation	ACG,ATG	T80M	XP_016859712.1
XM_017004224.1	1443	Missense Mutation	ACG,ATG	T80M	XP_016859713.1
XM_017004225.1	1443	Missense Mutation	ACG,ATG	T80M	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.

View Full Product Details