Product Details

SNP ID

rs148080323

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:109865261 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTGGCGGCCCTGTTTCTGCAATT[C/T]CTTCCCAATCACATCCCTGCAGGTC

Phenotype

MIM: 602443

Polymorphism

C/T, Transition 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	1891	Missense Mutation	AAA,GAA	K618E	NP_001161076.1
NM_001324128.1	1891	Missense Mutation	AAA,GAA	K528E	NP_001311057.1
NM_001324131.1	1891	Missense Mutation	AAA,GAA	K511E	NP_001311060.1
NM_001324132.1	1891	Missense Mutation	AAA,GAA	K599E	NP_001311061.1
NM_001324133.1	1891	Missense Mutation	GAA,GGA	E661G	NP_001311062.1
NM_001324134.1	1891	Missense Mutation	AAA,GAA	K468E	NP_001311063.1
NM_001324135.1	1891	Missense Mutation	AAA,GAA	K625E	NP_001311064.1
NM_001324136.1	1891	Missense Mutation	AAA,GAA	K637E	NP_001311065.1
NM_020383.3	1891	Missense Mutation	AAA,GAA	K642E	NP_065116.3
XM_011540134.1	1891	Missense Mutation	AAA,GAA	K584E	XP_011538436.1
XM_017016613.1	1891	Missense Mutation	AAA,GAA	K594E	XP_016872102.1
XM_017016614.1	1891	Missense Mutation	AAA,GAA	K528E	XP_016872103.1
XM_017016615.1	1891	Missense Mutation	AAA,GAA	K528E	XP_016872104.1

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