Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCCTGCTTCCTCATCAACTGCCTCT[A/G]CGAGCAGAACTTCGTGTGCAAGTTC
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
|||||||||||||||||||||||
Phenotype: |
MIM: 605123 | |||||||||||||||||||||||
Literature Links: |
SPINT1 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU)
|
|||
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR - Not Available | |||||
AMR - Not Available |
SPINT1 - serine peptidase inhibitor, Kunitz type 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001032367.1 | 478 | Missense Mutation | TAC,TGC | Y,C 123 | NP_001027539.1 | |
NM_003710.3 | 478 | Missense Mutation | TAC,TGC | Y,C 123 | NP_003701.1 | |
NM_181642.2 | 478 | Missense Mutation | TAC,TGC | Y,C 123 | NP_857593.1 | |
XM_006720657.1 | 478 | Missense Mutation | TAC,TGC | Y,C 123 | XP_006720720.1 | |
XM_011521957.1 | 478 | Missense Mutation | TAC,TGC | Y,C 123 | XP_011520259.1 | |
XM_011521958.1 | 478 | Missense Mutation | TAC,TGC | Y,C 123 | XP_011520260.1 |
Set Membership: |
HapMap |