Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTGTTGTTTCTTGGTGGGATACTTC[C/T]GGATGTTTGCTCTGAAAAAAGGGTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 118491 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CHKA 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
|
CHKA - choline kinase alpha | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001277.2 | 1198 | Missense Mutation | CAG,CGG | Q,R 367 | NP_001268.2 | |
NM_212469.1 | 1198 | Missense Mutation | CAG,CGG | Q,R 349 | NP_997634.1 | |
XM_017017147.1 | 1198 | Missense Mutation | CAG,CGG | Q,R 329 | XP_016872636.1 | |
XM_017017148.1 | 1198 | Missense Mutation | CAG,CGG | Q,R 191 | XP_016872637.1 |