Product Details

SNP ID

rs142576554

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:29574839 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGGGCTCTGGGGGCACTGTCTTCC[A/G]GCACTCACTCTGCAGCCGGTAGGCG

Phenotype

MIM: 608434

Polymorphism

A/G, Transition 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001085454.1	2363	Missense Mutation	CGG,TGG	R726W	NP_001078923.1
NM_014030.3	2363	Missense Mutation	CGG,TGG	R717W	NP_054749.2
XM_011524684.1	2363	Missense Mutation	CGG,TGG	R733W	XP_011522986.1
XM_011524685.1	2363	Missense Mutation	CGG,TGG	R724W	XP_011522987.1

Gene

TP53I13

Gene Name

tumor protein p53 inducible protein 13

There are no transcripts associated with this gene.

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