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- SNP ID:
- rs150696398
- Gene
-
PTCH1 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.9: 95446943 - 95446943 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
GGAGCTGCTTCCCCGGGGCCTCTCC[C/T]CGCATTCCACGTCCTGCAGCTCAAT
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601309
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Literature Links: |
PTCH1 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 |
| PTCH1 - patched 1 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_000264.3 | 4301 | Missense Mutation | GAG,GGG | E,G 1438 | NP_000255.2 | |
| NM_001083602.1 | 4301 | Missense Mutation | GAG,GGG | E,G 1372 | NP_001077071.1 | |
| NM_001083603.1 | 4301 | Missense Mutation | GAG,GGG | E,G 1437 | NP_001077072.1 | |
| NM_001083604.1 | 4301 | Missense Mutation | GAG,GGG | E,G 1287 | NP_001077073.1 | |
| NM_001083605.1 | 4301 | Missense Mutation | GAG,GGG | E,G 1287 | NP_001077074.1 | |
| NM_001083606.1 | 4301 | Missense Mutation | GAG,GGG | E,G 1287 | NP_001077075.1 | |
| NM_001083607.1 | 4301 | Missense Mutation | GAG,GGG | E,G 1287 | NP_001077076.1 | |
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