Product Details

SNP ID

rs201504408

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:49785270 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCACATATTGGAATGGCAAACAG[C/T]AGTACATCTTCAGGATGTGGCTGGC

Phenotype

MIM: 611280 MIM: 608378

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KLHDC2 PubMed Links

Gene Details

Gene

KLHDC2

Gene Name

kelch domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014315.2	2974	Intron			NP_055130.1
XM_006720094.3	2974	Intron			XP_006720157.1
XM_011536610.1	2974	Intron			XP_011534912.1

Gene

NEMF

Gene Name

nuclear export mediator factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_011537317.2	2974	Intron			XP_011535619.1
XM_011537318.2	2974	Intron			XP_011535620.1
XM_017021760.1	2974	Silent Mutation	CTA,CTG	L764L	XP_016877249.1
XM_017021761.1	2974	Silent Mutation	CTA,CTG	L764L	XP_016877250.1

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