Product Details

SNP ID
rs61732280
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:43062974 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTGGAGTCGGAGAAACAGAAGCTG[C/T]GGGCTCAGGTGCGGCGGCTATGCCA
Phenotype
MIM: 609577 MIM: 611822
Polymorphism
C/T, 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_001289034.1 433 Missense Mutation CGG,TGG R106W NP_001275963.1
NM_001289035.1 433 Intron NP_001275964.1
NM_138343.3 433 Missense Mutation CGG,TGG R106W NP_612352.1
NM_201521.2 433 Missense Mutation CGG,TGG R106W NP_958929.1
NM_201522.2 433 Missense Mutation CGG,TGG R106W NP_958930.1
NM_201523.2 433 Missense Mutation CGG,TGG R124W NP_958931.1
XM_011514989.1 433 Missense Mutation CGG,TGG R124W XP_011513291.1
XM_017011457.1 433 Missense Mutation CGG,TGG R106W XP_016866946.1
Gene
MRPL2
Gene Name
mitochondrial ribosomal protein L2
There are no transcripts associated with this gene.

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