Product Details

SNP ID

rs148398883

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:27398302 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGCTATGCGTCGTAATTAGAATA[A/C]CAATATTTTCTTTTTGGCTGAGGAA

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	2414	Missense Mutation	GTA,TTA	V766L	NP_001030014.2

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