Product Details

SNP ID
rs201789166
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:50549530 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGGGACCCCGACAGCTGCGGTTGG[C/T]GGGCACCATAGGCCGAAGCACCCGG
Phenotype
MIM: 607851
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
NKD1 PubMed Links

Gene Details

Gene
NKD1
Gene Name
naked cuticle homolog 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_033119.4 325 Missense Mutation GCG,GTG A56V NP_149110.1
XM_011523399.2 325 UTR 5 XP_011521701.1
XM_011523400.2 325 Intron XP_011521702.1
XM_017023804.1 325 UTR 5 XP_016879293.1

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