Product Details

SNP ID

rs1638630

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:27398846 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CAAAATAGTCTCTAAAAAACAAACT[C/T]ATTGGATGGATATCAGTTCCATGTT

Phenotype

MIM: 611791

Polymorphism

C/T, Transition 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	1870	Missense Mutation	ATA,ATG	I584M	NP_001030014.2

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