Product Details

SNP ID

rs142238416

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:109869964 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAATAAATCCTCACCTTGGTCTTCA[A/C]AGGAACCACAAGGACAACATTCTCA

Phenotype

MIM: 602443

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

XPNPEP1 PubMed Links

Gene Details

Gene

XPNPEP1

Gene Name

X-prolyl aminopeptidase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001167604.1	1729	Missense Mutation	GTG,TTG	V564L	NP_001161076.1
NM_001324128.1	1729	Missense Mutation	GTG,TTG	V474L	NP_001311057.1
NM_001324131.1	1729	Missense Mutation	GTG,TTG	V457L	NP_001311060.1
NM_001324132.1	1729	Missense Mutation	GTG,TTG	V545L	NP_001311061.1
NM_001324133.1	1729	Missense Mutation	GTG,TTG	V588L	NP_001311062.1
NM_001324134.1	1729	Missense Mutation	GTG,TTG	V414L	NP_001311063.1
NM_001324135.1	1729	Missense Mutation	GTG,TTG	V571L	NP_001311064.1
NM_001324136.1	1729	Missense Mutation	GTG,TTG	V583L	NP_001311065.1
NM_020383.3	1729	Missense Mutation	GTG,TTG	V588L	NP_065116.3
XM_011540134.1	1729	Missense Mutation	GTG,TTG	V530L	XP_011538436.1
XM_017016613.1	1729	Missense Mutation	GTG,TTG	V540L	XP_016872102.1
XM_017016614.1	1729	Missense Mutation	GTG,TTG	V474L	XP_016872103.1
XM_017016615.1	1729	Missense Mutation	GTG,TTG	V474L	XP_016872104.1

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