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- SNP ID:
- rs145543010
- Gene
-
GALEHMGCLLYPLA2PITHD1 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.1: 23794558 - 23794558 on Build GRCh38
- Polymorphism:
- A/G, Transition substitution
- Context Sequence [VIC/FAM]:
CTGTTGTCACACCTGCCAGGGTCCA[A/G]TTCAAGACATACCCGGGTGTCATGC
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
2 submissions
|
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Phenotype: |
MIM: 606953
MIM: 613898
MIM: 616143
|
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Literature Links: |
GALE PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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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 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| 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 | 1091 | Intron | NP_009191.1 | |||
| XM_005245728.4 | 1091 | Silent Mutation | CAA,CAG | Q,Q 213 | XP_005245785.1 | |
| XM_017000165.1 | 1091 | Silent Mutation | CAA,CAG | Q,Q 201 | XP_016855654.1 | |
| PITHD1 - PITH domain containing 1 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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