Product Details

SNP ID

rs201313732

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:169400339 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGAACAAATTTCAATATTTTCAT[C/T]TTCATCTTCATGAATAGCCTATACC

Phenotype

MIM: 604588

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NEK1 PubMed Links

Gene Details

Gene

NEK1

Gene Name

NIMA related kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199397.1	4229	Missense Mutation	AAT,GAT	N1245D	NP_001186326.1
NM_001199398.1	4229	Missense Mutation	AAT,GAT	N1201D	NP_001186327.1
NM_001199399.1	4229	Missense Mutation	AAT,GAT	N1148D	NP_001186328.1
NM_001199400.1	4229	Missense Mutation	AAT,GAT	N1173D	NP_001186329.1
NM_012224.2	4229	Missense Mutation	AAT,GAT	N1217D	NP_036356.1
XM_006714228.1	4229	Missense Mutation	AAT,GAT	N1186D	XP_006714291.1
XM_011532003.1	4229	Missense Mutation	AAT,GAT	N1217D	XP_011530305.1
XM_011532004.1	4229	Missense Mutation	AAT,GAT	N1173D	XP_011530306.1
XM_011532005.2	4229	Intron			XP_011530307.1
XM_017008249.1	4229	Missense Mutation	AAT,GAT	N1038D	XP_016863738.1
XM_017008250.1	4229	Missense Mutation	AAT,GAT	N1038D	XP_016863739.1
XM_017008251.1	4229	Missense Mutation	AAT,GAT	N1010D	XP_016863740.1
XM_017008252.1	4229	Missense Mutation	AAT,GAT	N1010D	XP_016863741.1
XM_017008253.1	4229	Missense Mutation	AAT,GAT	N861D	XP_016863742.1
XM_017008254.1	4229	Missense Mutation	AAT,GAT	N793D	XP_016863743.1

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