Product Details

SNP ID

rs74497079

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:148875658 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAATGCAGCATCAAAGTGATGTGCC[G/T]GTTCCGGCCCCTCAACGAAGCGGAG

Phenotype

MIM: 604593

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

KIF5C PubMed Links

Gene Details

Gene

KIF5C

Gene Name

kinesin family member 5C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004522.2	436	Missense Mutation	CGG,CTG	R14L	NP_004513.1
XM_011511157.2	436	Intron			XP_011509459.1
XM_017004062.1	436	Missense Mutation	CGG,CTG	R14L	XP_016859551.1

Gene

LOC101928553

Gene Name

uncharacterized LOC101928553

There are no transcripts associated with this gene.

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