Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCAGGCCAGCACTCACACATCCTGT[C/G]CAGCCCTAAGGCTGCTGTCCACCCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
4 submissions
|
||||||||||||||||||||
Phenotype: |
MIM: 606953 MIM: 613898 MIM: 616143 | ||||||||||||||||||||
Literature Links: |
GALE PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
GALE - UDP-galactose-4-epimerase | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000403.3 | 1148 | Missense Mutation | CAC,GAC | H,D 327 | NP_000394.2 | |
NM_001008216.1 | 1148 | Missense Mutation | CAC,GAC | H,D 327 | NP_001008217.1 | |
NM_001127621.1 | 1148 | Missense Mutation | CAC,GAC | H,D 327 | NP_001121093.1 |
HMGCL - 3-hydroxymethyl-3-methylglutaryl-CoA lyase | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
LYPLA2 - lysophospholipase II | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_007260.2 | 1148 | Intron | NP_009191.1 | |||
XM_005245728.4 | 1148 | Intron | XP_005245785.1 | |||
XM_017000165.1 | 1148 | Intron | XP_016855654.1 |
PITHD1 - PITH domain containing 1 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |