Product Details

SNP ID

rs201369084

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81120872 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCTCGGCAGGCCCAGCTCTGGCC[C/T]GGGGGCTCGGTCCCCGCCGCACTTC

Phenotype

MIM: 605276 MIM: 605475 MIM: 614059

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AATK PubMed Links

Gene Details

Gene

AATK

Gene Name

apoptosis associated tyrosine kinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080395.2	2989	Missense Mutation	AGG,GGG	R1022G	NP_001073864.2
NM_004920.2	2989	Missense Mutation	AGG,GGG	R919G	NP_004911.2
XM_006722193.2	2989	Missense Mutation	AGG,GGG	R974G	XP_006722256.1
XM_006722194.2	2989	Missense Mutation	AGG,GGG	R972G	XP_006722257.1
XM_006722195.2	2989	Missense Mutation	AGG,GGG	R855G	XP_006722258.1
XM_006722196.2	2989	Missense Mutation	AGG,GGG	R974G	XP_006722259.1
XM_011525509.2	2989	Missense Mutation	AGG,GGG	R981G	XP_011523811.1
XM_011525510.2	2989	Missense Mutation	AGG,GGG	R966G	XP_011523812.1
XM_011525511.2	2989	Missense Mutation	AGG,GGG	R800G	XP_011523813.1
XM_017025421.1	2989	Missense Mutation	AGG,GGG	R919G	XP_016880910.1
XM_017025422.1	2989	Missense Mutation	AGG,GGG	R800G	XP_016880911.1

Gene

BAIAP2

Gene Name

BAI1 associated protein 2

There are no transcripts associated with this gene.

Gene

MIR3065

Gene Name

microRNA 3065

There are no transcripts associated with this gene.

Gene

MIR338

Gene Name

microRNA 338

There are no transcripts associated with this gene.

Gene

MIR657

Gene Name

microRNA 657

There are no transcripts associated with this gene.

View Full Product Details