Product Details

SNP ID

rs12380958

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:134468875 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGTTGTCATTTAAATGAATTGCCT[C/G]TTATTTAATTTCGTCTGATGATACA

Phenotype

MIM: 308000

Polymorphism

C/G, Transversion 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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