Product Details

SNP ID

rs137917213

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:5033674 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCACCATGGGCTGAGAACAGCTGA[A/T]GGGCCTCAGGGTCTGGGCCAGGGAT

Phenotype

MIM: 603060 MIM: 607883

Polymorphism

A/T, Transversion Substitution

Allele Nomenclature

Literature Links

KIF1C PubMed Links

Additional Information

For this assay, SNP(s) [rs346821] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1528	Missense Mutation	CAT,CTT	H272L	NP_001098047.1
NM_017986.3	1528	Missense Mutation	CAT,CTT	H272L	NP_060456.3
XM_011523951.1	1528	Missense Mutation	CAT,CTT	H272L	XP_011522253.1

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