Product Details

SNP ID
rs142345813
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:40698619 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATCCCATGTTTACAGATCCTGAGT[C/T]TCTACCACCAAATTCTGCAAAACTA
Phenotype
MIM: 607742
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KRT24 PubMed Links

Gene Details

Gene
KRT24
Gene Name
keratin 24
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_019016.2 1126 Missense Mutation AAC,GAC N465D NP_061889.2
XM_006721739.3 1126 Missense Mutation AAC,GAC N367D XP_006721802.1
XM_011524460.2 1126 Missense Mutation AAC,GAC N362D XP_011522762.1
XM_017024299.1 1126 Intron XP_016879788.1
Gene
LOC105371775
Gene Name
uncharacterized LOC105371775
There are no transcripts associated with this gene.

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