Product Details

SNP ID

rs150956771

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:169737705 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGTACCCAACATCATTTTTATCTA[C/G]TGGAACAACCAAGCCTGCACCATGA

Phenotype

MIM: 616614

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

HPF1 PubMed Links

Gene Details

Gene

HPF1

Gene Name

histone PARylation factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017867.2	768	Intron			NP_060337.2
XM_017008332.1	768	Missense Mutation	CTA,GTA	L231V	XP_016863821.1

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