Product Details

SNP ID

rs182587062

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:43063119 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCTGGAGTTCCTGGGGCAGCTGC[A/G]GCAGTATGATGAGGATGGACATACC

Phenotype

MIM: 609577 MIM: 611822

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CUL7 PubMed Links

Gene Details

Gene

CUL7

Gene Name

cullin 7

There are no transcripts associated with this gene.

Gene

KLC4

Gene Name

kinesin light chain 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001289034.1	578	Missense Mutation	CAG,CGG	Q154R	NP_001275963.1
NM_001289035.1	578	Intron			NP_001275964.1
NM_138343.3	578	Missense Mutation	CAG,CGG	Q154R	NP_612352.1
NM_201521.2	578	Missense Mutation	CAG,CGG	Q154R	NP_958929.1
NM_201522.2	578	Missense Mutation	CAG,CGG	Q154R	NP_958930.1
NM_201523.2	578	Missense Mutation	CAG,CGG	Q172R	NP_958931.1
XM_011514989.1	578	Missense Mutation	CAG,CGG	Q172R	XP_011513291.1
XM_017011457.1	578	Missense Mutation	CAG,CGG	Q154R	XP_016866946.1

Gene

MRPL2

Gene Name

mitochondrial ribosomal protein L2

There are no transcripts associated with this gene.

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