Product Details

SNP ID

rs7017069

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:31033432 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGAGGGGAAGAGGGGGTCTCCGCT[C/G]TTCCTCAGTGCACTCTCTGACTGAA

Phenotype

MIM: 604611

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

PURG PubMed Links

Gene Details

Gene

PURG

Gene Name

purine rich element binding protein G

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001015508.2	284	UTR 5			NP_001015508.1
NM_001323311.1	284	Intron			NP_001310240.1
NM_001323312.1	284	Intron			NP_001310241.1
NM_013357.2	284	Intron			NP_037489.1

Gene

WRN

Gene Name

Werner syndrome RecQ like helicase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000553.4	284	UTR 5			NP_000544.2
XM_011544639.2	284	Intron			XP_011542941.1
XM_011544640.1	284	Intron			XP_011542942.1

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