Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGGCAGAGTCCCCCTCGGGGGTTCC[A/G]CCCAGGCCCAGGGACAGGCGGCGGG
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 |
---|---|---|
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 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000264.3 | 4159 | Missense Mutation | AGG,TGG | R,W 1391 | NP_000255.2 | |
NM_001083602.1 | 4159 | Missense Mutation | AGG,TGG | R,W 1325 | NP_001077071.1 | |
NM_001083603.1 | 4159 | Missense Mutation | AGG,TGG | R,W 1390 | NP_001077072.1 | |
NM_001083604.1 | 4159 | Missense Mutation | AGG,TGG | R,W 1240 | NP_001077073.1 | |
NM_001083605.1 | 4159 | Missense Mutation | AGG,TGG | R,W 1240 | NP_001077074.1 | |
NM_001083606.1 | 4159 | Missense Mutation | AGG,TGG | R,W 1240 | NP_001077075.1 | |
NM_001083607.1 | 4159 | Missense Mutation | AGG,TGG | R,W 1240 | NP_001077076.1 |