Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 613368 MIM: 608939 MIM: 610831 | ||||||||||||||||||||
Literature Links: |
CARNS1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
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 |
CARNS1 - carnosine synthase 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001166222.1 | 927 | Missense Mutation | ATC,TTC | I,F 282 | NP_001159694.1 | |
NM_020811.1 | 927 | Missense Mutation | ATC,TTC | I,F 159 | NP_065862.1 | |
XM_011545189.2 | 927 | Missense Mutation | ATC,TTC | I,F 282 | XP_011543491.1 | |
XM_011545191.2 | 927 | Missense Mutation | ATC,TTC | I,F 298 | XP_011543493.1 | |
XM_017018054.1 | 927 | Missense Mutation | ATC,TTC | I,F 298 | XP_016873543.1 | |
XM_017018055.1 | 927 | Missense Mutation | ATC,TTC | I,F 268 | XP_016873544.1 |
RPS6KB2 - ribosomal protein S6 kinase B2 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
TBC1D10C - TBC1 domain family member 10C | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |