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- SNP ID:
- rs28936682
- Gene
-
PMP22 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.17: 15230931 - 15230931 on Build GRCh38
- Polymorphism:
- A/G, Transition substitution
- Context Sequence [VIC/FAM]:
GTCTGGGCGCCTCATTCGCGTTTCC[A/G]CAAGATCACATAGATGACACCGCTG
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601097
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Literature Links: |
PMP22 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 |
| PMP22 - peripheral myelin protein 22 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_000304.3 | 668 | Missense Mutation | CGG,TGG | R,W 157 | NP_000295.1 | |
| NM_001281455.1 | 668 | Missense Mutation | CGG,TGG | R,W 157 | NP_001268384.1 | |
| NM_001281456.1 | 668 | Missense Mutation | CGG,TGG | R,W 157 | NP_001268385.1 | |
| NM_153321.2 | 668 | Missense Mutation | CGG,TGG | R,W 157 | NP_696996.1 | |
| NM_153322.2 | 668 | Missense Mutation | CGG,TGG | R,W 157 | NP_696997.1 | |
| XM_017024775.1 | 668 | Intron | XP_016880264.1 | |||
| XM_017024776.1 | 668 | Intron | XP_016880265.1 | |||
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