Product Details

SNP ID
rs139086753
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:95447044 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGGTCCTCAAACAGGCCGTGGTC[A/G]GTCTCAGGGTAGCCTGGGCAGAGTC
Phenotype
MIM: 601309
Polymorphism
A/G, 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 4200 Silent Mutation ACC,ACT T1404T NP_000255.2
NM_001083602.1 4200 Silent Mutation ACC,ACT T1338T NP_001077071.1
NM_001083603.1 4200 Silent Mutation ACC,ACT T1403T NP_001077072.1
NM_001083604.1 4200 Silent Mutation ACC,ACT T1253T NP_001077073.1
NM_001083605.1 4200 Silent Mutation ACC,ACT T1253T NP_001077074.1
NM_001083606.1 4200 Silent Mutation ACC,ACT T1253T NP_001077075.1
NM_001083607.1 4200 Silent Mutation ACC,ACT T1253T NP_001077076.1

View Full Product Details