Product Details

SNP ID

rs200048655

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:29571968 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGAGGAAGCAGAGGAAGAAGAAG[G/T]CATGGATCTACTGTGAAAGCCTTTC

Phenotype

MIM: 608434

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ABHD15 PubMed Links

Gene Details

Gene

ABHD15

Gene Name

abhydrolase domain containing 15

There are no transcripts associated with this gene.

Gene

GIT1

Gene Name

GIT ArfGAP 1

There are no transcripts associated with this gene.

Gene

TP53I13

Gene Name

tumor protein p53 inducible protein 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138349.2	462	Missense Mutation	GCA,TCA	A142S	NP_612358.3
XM_017025282.1	462	Missense Mutation	GCA,TCA	A117S	XP_016880771.1

View Full Product Details