Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCCGGGGCCTCTCCTCGCATTCCAC[A/G]TCCTGCAGCTCAATGACTTCCACCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601309 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PTCH1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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PTCH1 - patched 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000264.3 | 4290 | Silent Mutation | GAC,GAT | D,D 1434 | NP_000255.2 | |
NM_001083602.1 | 4290 | Silent Mutation | GAC,GAT | D,D 1368 | NP_001077071.1 | |
NM_001083603.1 | 4290 | Silent Mutation | GAC,GAT | D,D 1433 | NP_001077072.1 | |
NM_001083604.1 | 4290 | Silent Mutation | GAC,GAT | D,D 1283 | NP_001077073.1 | |
NM_001083605.1 | 4290 | Silent Mutation | GAC,GAT | D,D 1283 | NP_001077074.1 | |
NM_001083606.1 | 4290 | Silent Mutation | GAC,GAT | D,D 1283 | NP_001077075.1 | |
NM_001083607.1 | 4290 | Silent Mutation | GAC,GAT | D,D 1283 | NP_001077076.1 |