Product Details

SNP ID

rs148741299

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:32017181 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGCCCTCTTCTGGCCATATTCTTT[A/G]ACCTGACTGCTTCCTTTATGCGATC

Phenotype

MIM: 602809

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KIF5B PubMed Links

Gene Details

Gene

KIF5B

Gene Name

kinesin family member 5B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004521.2	2799	Missense Mutation	TCA,TTA	S908L	NP_004512.1
XM_017016224.1	2799	Missense Mutation	TCA,TTA	S814L	XP_016871713.1

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