Product Details

SNP ID
rs148142832
Assay Type
Functionally Tested
NCBI dbSNP Submissions
10
Location
Chr.1:44823146 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGAGGAGGCCCAGGAGCGTGAGCA[C/G]TGTCAGCGCCGCAAAGAAGTACCTA
Phenotype
MIM: 603673
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
BTBD19 PubMed Links

Gene Details

Gene
BTBD19
Gene Name
BTB domain containing 19
There are no transcripts associated with this gene.

Gene
PTCH2
Gene Name
patched 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001166292.1 3292 Missense Mutation CTG,GTG L1094V NP_001159764.1
NM_003738.4 3292 Missense Mutation CTG,GTG L1094V NP_003729.3

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