Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAATGGTGTCCCCCAGGGAGATCTC[A/G]TAGCAGCCCATTGAGTAGAACTTCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
6 submissions
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 606953 MIM: 613898 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GALE 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
|
GALE - UDP-galactose-4-epimerase | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
HMGCL - 3-hydroxymethyl-3-methylglutaryl-CoA lyase | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000191.2 | 425 | Silent Mutation | TAC,TAT | Y,Y 198 | NP_000182.2 | |
NM_001166059.1 | 425 | Silent Mutation | TAC,TAT | Y,Y 127 | NP_001159531.1 |