Product Details

SNP ID
rs142827733
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:44931370 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTCATTGGTCTACACACAGTCCA[A/C]TGATTTTGATGAGGATCGTATCTTT
Phenotype
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
KLHL28 PubMed Links

Gene Details

Gene
KLHL28
Gene Name
kelch like family member 28
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001308112.1 1735 Missense Mutation CAG,CAT Q519H NP_001295041.1
NM_017658.4 1735 Missense Mutation CAG,CAT Q505H NP_060128.2
XM_005267770.3 1735 Missense Mutation CAG,CAT Q505H XP_005267827.1
XM_006720174.3 1735 Intron XP_006720237.1
XM_011536847.2 1735 Missense Mutation CAG,CAT Q505H XP_011535149.1
XM_011536849.2 1735 Intron XP_011535151.1
XM_017021378.1 1735 Intron XP_016876867.1

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