Product Details

SNP ID

rs77381814

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.14:103699410 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTCTGGAAGGCACTGCTCAGCTCA[C/T]GCAGCGTGGCCCCCAGGGACTGCAG

Phenotype

MIM: 600025 MIM: 600675

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

KLC1 PubMed Links

Additional Information

For this assay, SNP(s) [rs861539] 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

KLC1

Gene Name

kinesin light chain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130107.1	1108	Intron			NP_001123579.1
NM_005552.4	1108	Intron			NP_005543.2
NM_182923.3	1108	Intron			NP_891553.2

Gene

XRCC3

Gene Name

X-ray repair cross complementing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001100118.1	1108	Missense Mutation	CAT,CGT	H243R	NP_001093588.1
NM_001100119.1	1108	Missense Mutation	CAT,CGT	H243R	NP_001093589.1
NM_005432.3	1108	Missense Mutation	CAT,CGT	H243R	NP_005423.1
XM_005268046.2	1108	Missense Mutation	CAT,CGT	H243R	XP_005268103.1
XM_011537138.2	1108	Missense Mutation	CAT,CGT	H243R	XP_011535440.1

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