Product Details

SNP ID
rs139710191
Assay Type
Functionally Tested
NCBI dbSNP Submissions
3
Location
Chr.1:26950095 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGCAGTACACCTGGAGCAAGGGTG[A/C]CCCCGACGAGTCTGTGTCGGTGCCC
Phenotype
MIM: 616758 MIM: 610325
Polymorphism
A/C, Transversion Substitution
Allele Nomenclature
Literature Links
KDF1 PubMed Links

Gene Details

Gene
KDF1
Gene Name
keratinocyte differentiation factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152365.2 1264 Missense Mutation GCA,TCA A391S NP_689578.2
XM_005245735.2 1264 Missense Mutation GCA,TCA A391S XP_005245792.1
XM_011540622.1 1264 Missense Mutation GCA,TCA A391S XP_011538924.1
Gene
NUDC
Gene Name
nuclear distribution C, dynein complex regulator
There are no transcripts associated with this gene.

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