Product Details

SNP ID

rs139600575

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:27398508 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAATATTGCACATATGCATCTAAC[A/C]AAAACTCTGTAAGATTTTTATCTAC

Phenotype

MIM: 611791

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

PTCHD3 PubMed Links

Gene Details

Gene

PTCHD3

Gene Name

patched domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001034842.3	2208	Missense Mutation	TGG,TTG	W697L	NP_001030014.2

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