Product Details

SNP ID

rs187459344

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81119392 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCAGGCCTCACCTCTCTTGGACT[C/T]GGCGTCCGAGTCAGACACGTGCGTG

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	3997	Missense Mutation	AAG,GAG	K1358E	NP_001073864.2
NM_004920.2	3997	Missense Mutation	AAG,GAG	K1255E	NP_004911.2
XM_006722193.2	3997	Missense Mutation	AAG,GAG	K1310E	XP_006722256.1
XM_006722194.2	3997	Missense Mutation	AAG,GAG	K1308E	XP_006722257.1
XM_006722195.2	3997	Missense Mutation	AAG,GAG	K1191E	XP_006722258.1
XM_006722196.2	3997	Missense Mutation	AAG,GAG	K1310E	XP_006722259.1
XM_011525509.2	3997	Missense Mutation	AAG,GAG	K1317E	XP_011523811.1
XM_011525510.2	3997	Missense Mutation	AAG,GAG	K1302E	XP_011523812.1
XM_011525511.2	3997	Missense Mutation	AAG,GAG	K1136E	XP_011523813.1
XM_017025421.1	3997	Missense Mutation	AAG,GAG	K1255E	XP_016880910.1
XM_017025422.1	3997	Missense Mutation	AAG,GAG	K1136E	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.

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