Product Details

SNP ID

rs147182997

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:49675958 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGCTGGAGAAACATGGGCCTGTTT[A/G]TGAGGATGGTGAGGCATCTGGCTGG

Phenotype

MIM: 102645 MIM: 604020 MIM: 142408

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

APEH PubMed Links

Gene Details

Gene

APEH

Gene Name

acylaminoacyl-peptide hydrolase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001640.3	1734	Missense Mutation	TAT,TGT	Y145C	NP_001631.3
XM_005265097.2	1734	Missense Mutation	TAT,TGT	Y145C	XP_005265154.1
XM_005265098.4	1734	Missense Mutation	TAT,TGT	Y44C	XP_005265155.1
XM_011533658.2	1734	Missense Mutation	TAT,TGT	Y190C	XP_011531960.1
XM_011533659.1	1734	Missense Mutation	TAT,TGT	Y173C	XP_011531961.1
XM_011533660.2	1734	Missense Mutation	TAT,TGT	Y145C	XP_011531962.1
XM_011533661.2	1734	Missense Mutation	ATG,GTG	M5V	XP_011531963.1
XM_011533662.2	1734	Missense Mutation	ATG,GTG	M5V	XP_011531964.1
XM_011533663.2	1734	Missense Mutation	ATG,GTG	M5V	XP_011531965.1
XM_017006285.1	1734	Missense Mutation	TAT,TGT	Y190C	XP_016861774.1
XM_017006286.1	1734	Missense Mutation	TAT,TGT	Y44C	XP_016861775.1

Gene

BSN

Gene Name

bassoon presynaptic cytomatrix protein

There are no transcripts associated with this gene.

Gene

MST1

Gene Name

macrophage stimulating 1

There are no transcripts associated with this gene.

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