Product Details

SNP ID

rs296890

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.9:83980816 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGAGGTAAAAAAGGAACTGGGAGCG[A/C]GCCGCGGCGGTTCCTGTCCTTACAG

Phenotype

MIM: 600712 MIM: 610404

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

HNRNPK PubMed Links

Additional Information

For this assay, SNP(s) [rs188055179] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

HNRNPK

Gene Name

heterogeneous nuclear ribonucleoprotein K

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318186.1	77	Intron			NP_001305115.1
NM_001318187.1	77	Intron			NP_001305116.1
NM_001318188.1	77	Intron			NP_001305117.1
NM_002140.4	77	Intron			NP_002131.2
NM_031262.3	77	Intron			NP_112552.1
NM_031263.3	77	Intron			NP_112553.1
XM_005251960.2	77	Intron			XP_005252017.1
XM_005251963.3	77	Intron			XP_005252020.1
XM_005251965.2	77	Intron			XP_005252022.1
XM_011518616.1	77	Intron			XP_011516918.1
XM_017014668.1	77	Intron			XP_016870157.1
XM_017014669.1	77	Intron			XP_016870158.1

Gene

RMI1

Gene Name

RecQ mediated genome instability 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024945.2	77	UTR 5			NP_079221.2
XM_005252211.2	77	UTR 5			XP_005252268.1
XM_005252213.2	77	UTR 5			XP_005252270.1
XM_011519034.2	77	UTR 5			XP_011517336.1
XM_017015140.1	77	Intron			XP_016870629.1

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