Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTATATCGTTTTGCCTAATTTCAGG[C/T]GGAAATTGGCTGAGAGGTCTGAGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 300508 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
UTP14A 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
|
UTP14A - UTP14A small subunit processome component | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001166221.1 | 265 | Missense Mutation | CGG,TGG | R,W 59 | NP_001159693.1 | |
NM_006649.3 | 265 | Missense Mutation | CGG,TGG | R,W 59 | NP_006640.2 | |
XM_017029237.1 | 265 | UTR 5 | XP_016884726.1 | |||
XM_017029238.1 | 265 | UTR 5 | XP_016884727.1 |