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- SNP ID:
- rs150232196
- Gene
-
DHRS12WDFY2 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.13: 51756383 - 51756383 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
CGTCTGTGGCAAGTGCAGCTCCAAG[C/T]GCTCCTCCATCCCCCTGATGGGCTT
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 616163
MIM: 610418
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Literature Links: |
DHRS12 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 |
| DHRS12 - dehydrogenase/reductase 12 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001031719.2 | 1216 | Intron | NP_001026889.1 | |||
| NM_001270424.1 | 1216 | Intron | NP_001257353.1 | |||
| NM_024705.2 | 1216 | Intron | NP_078981.1 | |||
| XM_005266527.3 | 1216 | Intron | XP_005266584.1 | |||
| XM_005266528.4 | 1216 | Intron | XP_005266585.1 | |||
| XM_011535235.2 | 1216 | Intron | XP_011533537.1 | |||
| XM_011535236.2 | 1216 | Intron | XP_011533538.1 | |||
| XM_011535237.1 | 1216 | Intron | XP_011533539.1 | |||
| XM_011535238.1 | 1216 | Intron | XP_011533540.1 | |||
| XM_017020749.1 | 1216 | Intron | XP_016876238.1 | |||
| XM_017020750.1 | 1216 | UTR 3 | XP_016876239.1 | |||
| XM_017020751.1 | 1216 | UTR 3 | XP_016876240.1 | |||
| XM_017020752.1 | 1216 | Intron | XP_016876241.1 | |||
| XM_017020753.1 | 1216 | Intron | XP_016876242.1 | |||
| XM_017020754.1 | 1216 | Intron | XP_016876243.1 | |||
| WDFY2 - WD repeat and FYVE domain containing 2 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_052950.3 | 1216 | Missense Mutation | CGC,TGC | R,C 329 | NP_443182.1 | |
| XM_011534914.1 | 1216 | Missense Mutation | CGC,TGC | R,C 329 | XP_011533216.1 | |
| XM_011534915.2 | 1216 | Missense Mutation | CGC,TGC | R,C 240 | XP_011533217.1 | |
| XM_017020386.1 | 1216 | Missense Mutation | CGC,TGC | R,C 240 | XP_016875875.1 | |
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