Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
22 submissions
|
||||||||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 601863 | ||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
GBAT2 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)
|
||||||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | ||||||
AFR
|
Japanese - Not Available | JPT (Japanese)
|
||||||
EUR
|
||||||||
AMR
|
GBAT2 - glioblastoma multiforme-associated transcript 2 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
RFX5 - regulatory factor X5 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000449.3 | 1709 | Missense Mutation | CCA,TCA | P,S 499 | NP_000440.1 | |
NM_001025603.1 | 1709 | Missense Mutation | CCA,TCA | P,S 499 | NP_001020774.1 | |
XM_005245405.1 | 1709 | Missense Mutation | CCA,TCA | P,S 499 | XP_005245462.1 | |
XM_005245406.3 | 1709 | Missense Mutation | CCA,TCA | P,S 499 | XP_005245463.1 | |
XM_011509847.1 | 1709 | Missense Mutation | CCA,TCA | P,S 499 | XP_011508149.1 | |
XM_011509848.1 | 1709 | Missense Mutation | CCA,TCA | P,S 499 | XP_011508150.1 | |
XM_011509849.1 | 1709 | Missense Mutation | CCA,TCA | P,S 499 | XP_011508151.1 | |
XM_011509850.1 | 1709 | Missense Mutation | CCA,TCA | P,S 499 | XP_011508152.1 | |
XM_017001999.1 | 1709 | Missense Mutation | CCA,TCA | P,S 328 | XP_016857488.1 | |
XM_017002000.1 | 1709 | Missense Mutation | CCA,TCA | P,S 328 | XP_016857489.1 |
Set Membership: |
HapMap |