Product Details

SNP ID

rs2304445

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:5033603 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GAAAAGCTCTGCACAGAAGGCAGCA[C/T]GCCATTGGTCACGGCACTGGTGAAG

Phenotype

MIM: 603060 MIM: 607883

Polymorphism

C/T, 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	1599	Missense Mutation	ATG,GTG	M296V	NP_001098047.1
NM_017986.3	1599	Missense Mutation	ATG,GTG	M296V	NP_060456.3
XM_011523951.1	1599	Missense Mutation	ATG,GTG	M296V	XP_011522253.1

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