Product Details

SNP ID

rs141935155

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:83981703 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCATAATCTGCACATAAAGCGAAA[G/T]CCACCATTGGCCGAATACATGCATA

Phenotype

MIM: 600712 MIM: 610404

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

HNRNPK PubMed Links

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		Intron			NP_001305115.1
NM_001318187.1		Intron			NP_001305116.1
NM_001318188.1		Intron			NP_001305117.1
NM_002140.4		Intron			NP_002131.2
NM_031262.3		Intron			NP_112552.1
NM_031263.3		Intron			NP_112553.1
XM_005251960.2		Intron			XP_005252017.1
XM_005251963.3		Intron			XP_005252020.1
XM_005251965.2		Intron			XP_005252022.1
XM_011518616.1		Intron			XP_011516918.1
XM_017014668.1		Intron			XP_016870157.1
XM_017014669.1		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		Intron			NP_079221.2
XM_005252211.2		Intron			XP_005252268.1
XM_005252213.2		Intron			XP_005252270.1
XM_011519034.2		Intron			XP_011517336.1
XM_017015140.1		Intron			XP_016870629.1

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