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 |
View Full Product Details