Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCCGGTCCTGGCCCCTAGGGCAGCC[A/G]GGGGATGCTGATGGCCCCCTCCCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 605202 MIM: 606556 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NANS 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
|
NANS - N-acetylneuraminate synthase | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
TRIM14 - tripartite motif containing 14 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_014788.3 | 1313 | Missense Mutation | CGG,TGG | R,W 440 | NP_055603.2 | |
NM_033219.2 | 1313 | Missense Mutation | CGG,TGG | R,W 440 | NP_150088.1 | |
XM_005252320.3 | 1313 | Missense Mutation | CGG,TGG | R,W 440 | XP_005252377.1 | |
XM_006717338.1 | 1313 | Missense Mutation | CGG,TGG | R,W 390 | XP_006717401.1 | |
XM_011519244.2 | 1313 | Missense Mutation | CGG,TGG | R,W 283 | XP_011517546.1 | |
XM_017015352.1 | 1313 | Missense Mutation | CGG,TGG | R,W 440 | XP_016870841.1 | |
XM_017015353.1 | 1313 | Missense Mutation | CGG,TGG | R,W 440 | XP_016870842.1 | |
XM_017015354.1 | 1313 | Intron | XP_016870843.1 |