Product Details

SNP ID

rs200865221

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:109865253 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGAGAGCTTCCTGGCGGCCCTGTTT[A/C]TGCAATTCCTTCCCAATCACATCCC

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	1899	Missense Mutation	CAG,CAT	Q620H	NP_001161076.1
NM_001324128.1	1899	Missense Mutation	CAG,CAT	Q530H	NP_001311057.1
NM_001324131.1	1899	Missense Mutation	CAG,CAT	Q513H	NP_001311060.1
NM_001324132.1	1899	Missense Mutation	CAG,CAT	Q601H	NP_001311061.1
NM_001324133.1	1899	Nonsense Mutation	GAA,TAA	E664*	NP_001311062.1
NM_001324134.1	1899	Missense Mutation	CAG,CAT	Q470H	NP_001311063.1
NM_001324135.1	1899	Missense Mutation	CAG,CAT	Q627H	NP_001311064.1
NM_001324136.1	1899	Missense Mutation	CAG,CAT	Q639H	NP_001311065.1
NM_020383.3	1899	Missense Mutation	CAG,CAT	Q644H	NP_065116.3
XM_011540134.1	1899	Missense Mutation	CAG,CAT	Q586H	XP_011538436.1
XM_017016613.1	1899	Missense Mutation	CAG,CAT	Q596H	XP_016872102.1
XM_017016614.1	1899	Missense Mutation	CAG,CAT	Q530H	XP_016872103.1
XM_017016615.1	1899	Missense Mutation	CAG,CAT	Q530H	XP_016872104.1

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