Product Details

SNP ID

rs144037435

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:23335182 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGGGTCATCGTCACCTCCTTCCAG[A/G]AAGCCAACATGCTGGACCAGCATCA

Phenotype

MIM: 300828

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PTCHD1 PubMed Links

Gene Details

Gene

PTCHD1

Gene Name

patched domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173495.2	315	Missense Mutation	AAA,GAA	K103E	NP_775766.2
XM_011545449.2	315	Missense Mutation	AAA,GAA	K103E	XP_011543751.1

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