Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCCTGGAGCCCTGAGAAGATCGGCA[C/T]CCGCTTCCTGCTGTACACCAATGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 604422 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PNLIPRP1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
PNLIPRP1 - pancreatic lipase related protein 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001303135.1 | 188 | Missense Mutation | ACC,ATC | T,I 54 | NP_001290064.1 | |
NM_006229.3 | 188 | Missense Mutation | ACC,ATC | T,I 54 | NP_006220.1 | |
XM_011539868.1 | 188 | Missense Mutation | ACC,ATC | T,I 54 | XP_011538170.1 | |
XM_011539869.1 | 188 | UTR 5 | XP_011538171.1 |