Product Details

SNP ID

rs187609896

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:5033148 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTTCACATATGAGAACACACACA[C/G]ACACAGCACCCACGACAGCACCTGC

Phenotype

MIM: 603060 MIM: 607883

Polymorphism

C/G, Transversion 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	1869	Missense Mutation	CTG,GTG	L386V	NP_001098047.1
NM_017986.3	1869	Missense Mutation	CTG,GTG	L386V	NP_060456.3
XM_011523951.1	1869	Missense Mutation	CTG,GTG	L386V	XP_011522253.1

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