Product Details

SNP ID

rs17000619

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:134463210 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTCAAATGTGTCTGATACAACCCAT[A/G]CTGCTTGTAACTATCGTTTTAAACT

Phenotype

MIM: 308000

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HPRT1 PubMed Links

Gene Details

Gene

HPRT1

Gene Name

hypoxanthine phosphoribosyltransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000194.2		Intron			NP_000185.1

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