Product Details

SNP ID

rs143848711

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:5033689 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAACAGCTGATGGGCCTCAGGGTCT[A/G]GGCCAGGGATGGTGCCTGCTGCCTG

Phenotype

MIM: 603060 MIM: 607883

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KIF1C PubMed Links

Gene Details

Gene

KIF1C

Gene Name

kinesin family member 1C

There are no transcripts associated with this gene.

Gene

SLC52A1

Gene Name

solute carrier family 52 member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001104577.1	1513	Missense Mutation	CCA,CTA	P267L	NP_001098047.1
NM_017986.3	1513	Missense Mutation	CCA,CTA	P267L	NP_060456.3
XM_011523951.1	1513	Missense Mutation	CCA,CTA	P267L	XP_011522253.1

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