Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGGGAGGGCTTCATCAACTACCTCA[C/G]GAGGGAAGTGTACCGCTCCTACCGC
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
|||||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 605123 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
SPINT1 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)
|
||||||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | ||||||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | ||||||
EUR
|
||||||||
AMR
|
SPINT1 - serine peptidase inhibitor, Kunitz type 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001032367.1 | 535 | Missense Mutation | ACG,AGG | T,R 142 | NP_001027539.1 | |
NM_003710.3 | 535 | Missense Mutation | ACG,AGG | T,R 142 | NP_003701.1 | |
NM_181642.2 | 535 | Missense Mutation | ACG,AGG | T,R 142 | NP_857593.1 | |
XM_006720657.1 | 535 | Missense Mutation | ACG,AGG | T,R 142 | XP_006720720.1 | |
XM_011521957.1 | 535 | Missense Mutation | ACG,AGG | T,R 142 | XP_011520259.1 | |
XM_011521958.1 | 535 | Missense Mutation | ACG,AGG | T,R 142 | XP_011520260.1 |
Set Membership: |
HapMap |