Product Details

SNP ID

rs60234971

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:23339532 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTTTAAATACATTAAATAGAATT[A/C]AGTTGCAAACAAGGTTAATAAAATC

Phenotype

MIM: 300828

Polymorphism

A/C, Transversion 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		Intron			NP_775766.2
XM_011545449.2		Intron			XP_011543751.1

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