Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAGCAGGGGCTCCTGCAGGTGCTCA[A/T]GGCCTACACCCTGTATCGACCGGAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 613368 MIM: 176875 MIM: 603761 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 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
PPP1CA - protein phosphatase 1 catalytic subunit alpha | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
RAD9A - RAD9 checkpoint clamp component A | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
TBC1D10C - TBC1 domain family member 10C | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001256508.1 | 810 | Missense Mutation | AGG,TGG | R,W 164 | NP_001243437.1 | |
NM_198517.3 | 810 | Missense Mutation | AAG,ATG | K,M 165 | NP_940919.1 | |
XM_006718538.3 | 810 | Missense Mutation | AAG,ATG | K,M 165 | XP_006718601.1 | |
XM_006718539.3 | 810 | Missense Mutation | AAG,ATG | K,M 165 | XP_006718602.1 | |
XM_006718540.3 | 810 | Missense Mutation | AAG,ATG | K,M 165 | XP_006718603.1 | |
XM_006718541.3 | 810 | Missense Mutation | AAG,ATG | K,M 64 | XP_006718604.1 | |
XM_006718542.3 | 810 | Missense Mutation | AAG,ATG | K,M 64 | XP_006718605.1 | |
XM_006718543.2 | 810 | Missense Mutation | AAG,ATG | K,M 64 | XP_006718606.1 | |
XM_006718544.3 | 810 | Missense Mutation | AAG,ATG | K,M 64 | XP_006718607.1 | |
XM_011545001.2 | 810 | Missense Mutation | AAG,ATG | K,M 64 | XP_011543303.1 | |
XM_011545002.2 | 810 | Missense Mutation | AAG,ATG | K,M 165 | XP_011543304.1 |