Product Details

SNP ID
rs201065398
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:27780634 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGAGGAGATGGATGAGGTGAGCCTG[A/C]TGTCCGAGCTGGTGGAGGCGGCCTC
Phenotype
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
KLHL42 PubMed Links

Gene Details

Gene
KLHL42
Gene Name
kelch like family member 42
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020782.1 678 Missense Mutation ATG,CTG M102L NP_065833.1
XM_017019698.1 678 Missense Mutation ATG,CTG M102L XP_016875187.1
Gene
MANSC4
Gene Name
MANSC domain containing 4
There are no transcripts associated with this gene.

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