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- SNP ID:
- rs17851929
- Gene
-
PM20D2SRSF12 - Gene Name
- Set Membership:
- > HapMap
- Chromosome Location:
- Chr.6: 89098919 - 89098919 on Build GRCh38
- Polymorphism:
- G/T, Transversion substitution
- Context Sequence [VIC/FAM]:
AATGATTTGGAACGAGATTTAGACT[G/T]GCTATAAGAAAATCGCCTGTGTCGA
Genomic Map
Back To TopAssay Details
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615913
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Literature Links: |
PM20D2 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)
|
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| EUR - Not Available | |||||
| AMR - Not Available |
| PM20D2 - peptidase M20 domain containing 2 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001010853.2 | 895 | Intron | NP_001010853.1 | |||
| XM_005248661.2 | 895 | Intron | XP_005248718.1 | |||
| XM_005248662.4 | 895 | Intron | XP_005248719.1 | |||
| XM_011535481.2 | 895 | Intron | XP_011533783.1 | |||
| XM_017010289.1 | 895 | Intron | XP_016865778.1 | |||
| XM_017010290.1 | 895 | Intron | XP_016865779.1 | |||
| XM_017010291.1 | 895 | Intron | XP_016865780.1 | |||
| SRSF12 - serine and arginine rich splicing factor 12 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_080743.4 | 895 | Missense Mutation | AAG,CAG | K,Q 149 | NP_542781.3 | |
| XM_006715348.2 | 895 | Missense Mutation | AAG,CAG | K,Q 54 | XP_006715411.1 | |
| XM_011535483.2 | 895 | Missense Mutation | AAG,CAG | K,Q 134 | XP_011533785.1 | |
| XM_011535484.1 | 895 | Missense Mutation | AAG,CAG | K,Q 54 | XP_011533786.1 | |
| XM_017010292.1 | 895 | Missense Mutation | AAG,CAG | K,Q 149 | XP_016865781.1 | |
| XM_017010293.1 | 895 | Missense Mutation | AAG,CAG | K,Q 54 | XP_016865782.1 | |
Back To TopMore Information
Set Membership: |
HapMap
|
Panther Classification:
Gene Ontology Categories:
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