Product Details

SNP ID
rs149667902
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:95447016 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTCACACCGGACGTGGAAAGGCA[C/T]GTGGGGGTCCTCAAACAGGCCGTGG
Phenotype
MIM: 601309
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PTCH1 PubMed Links

Gene Details

Gene
PTCH1
Gene Name
patched 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000264.3 4228 Missense Mutation ATG,GTG M1414V NP_000255.2
NM_001083602.1 4228 Missense Mutation ATG,GTG M1348V NP_001077071.1
NM_001083603.1 4228 Missense Mutation ATG,GTG M1413V NP_001077072.1
NM_001083604.1 4228 Missense Mutation ATG,GTG M1263V NP_001077073.1
NM_001083605.1 4228 Missense Mutation ATG,GTG M1263V NP_001077074.1
NM_001083606.1 4228 Missense Mutation ATG,GTG M1263V NP_001077075.1
NM_001083607.1 4228 Missense Mutation ATG,GTG M1263V NP_001077076.1

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