Product Details

SNP ID

rs140797044

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:34254498 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCAGAACCATGATTTCATCCAGC[C/T]GGGTCACAAAATCTTCAAAATCCTG

Phenotype

MIM: 613747 MIM: 609787

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KIF24 PubMed Links

Gene Details

Gene

KIF24

Gene Name

kinesin family member 24

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_194313.2	2713	Missense Mutation	CAG,CGG	Q1330R	NP_919289.2
XM_005251451.2	2713	Missense Mutation	CAG,CGG	Q969R	XP_005251508.1
XM_006716764.2	2713	Missense Mutation	CAG,CGG	Q872R	XP_006716827.1
XM_011517861.1	2713	Missense Mutation	CAG,CGG	Q1361R	XP_011516163.1
XM_011517863.2	2713	Missense Mutation	CAG,CGG	Q1330R	XP_011516165.1
XM_017014697.1	2713	Missense Mutation	CAG,CGG	Q1330R	XP_016870186.1
XM_017014698.1	2713	Missense Mutation	CAG,CGG	Q1041R	XP_016870187.1

Gene

UBAP1

Gene Name

ubiquitin associated protein 1

There are no transcripts associated with this gene.

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