Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCCCTTCCTAGGTTTTAAAACATGA[A/C]TCCTACACTCATCCTTGCTGCCTTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 116880 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CTSL 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
|
CTSL - cathepsin L | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001257971.1 | 895 | Missense Mutation | AAT,ACT | N,T 2 | NP_001244900.1 | |
NM_001257972.1 | 895 | Missense Mutation | AAT,ACT | N,T 2 | NP_001244901.1 | |
NM_001257973.1 | 895 | UTR 5 | NP_001244902.1 | |||
NM_001912.4 | 895 | Missense Mutation | AAT,ACT | N,T 2 | NP_001903.1 | |
NM_145918.2 | 895 | Missense Mutation | AAT,ACT | N,T 2 | NP_666023.1 | |
XM_005251716.3 | 895 | Missense Mutation | AAT,ACT | N,T 2 | XP_005251773.1 | |
XM_011518263.1 | 895 | Missense Mutation | AAT,ACT | N,T 2 | XP_011516565.1 | |
XM_017014293.1 | 895 | Missense Mutation | AAT,ACT | N,T 2 | XP_016869782.1 |