Product Details

SNP ID

rs190916567

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:43054343 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGGGGTAGTGGCCGAATCTTTCG[A/G]CCAGCCCAGCCCCCCTTGCGGTGCC

Phenotype

MIM: 609577 MIM: 611822

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CUL7 PubMed Links

Additional Information

For this assay, SNP(s) [rs58470539] are located under a primer 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

CUL7

Gene Name

cullin 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001168370.1	834	Intron			NP_001161842.1
NM_014780.4	834	Intron			NP_055595.2
XM_005249503.2	834	Intron			XP_005249560.1
XM_006715285.1	834	Intron			XP_006715348.1
XM_011515019.2	834	Intron			XP_011513321.1
XM_011515020.2	834	Intron			XP_011513322.1
XM_011515021.1	834	Intron			XP_011513323.1
XM_017011533.1	834	Intron			XP_016867022.1
XM_017011534.1	834	Intron			XP_016867023.1
XM_017011535.1	834	Intron			XP_016867024.1
XM_017011536.1	834	Intron			XP_016867025.1
XM_017011537.1	834	Intron			XP_016867026.1
XM_017011538.1	834	Intron			XP_016867027.1
XM_017011539.1	834	Intron			XP_016867028.1
XM_017011540.1	834	Intron			XP_016867029.1

Gene

KLC4

Gene Name

kinesin light chain 4

There are no transcripts associated with this gene.

Gene

MRPL2

Gene Name

mitochondrial ribosomal protein L2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001300848.1	834	UTR 3			NP_001287777.1
NM_015950.4	834	Silent Mutation	GGC,GGT	G283G	NP_057034.2
XM_005249161.4	834	Silent Mutation	GGC,GGT	G251G	XP_005249218.1

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