Product Details

SNP ID
rs201275860
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:111776204 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCTGGGGGAGTGGGGATGCTGATG[A/G]TGGCTGTGGTGATCTGGGATGTTTT
Phenotype
MIM: 606168 MIM: 605411
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DDX20 PubMed Links

Gene Details

Gene
DDX20
Gene Name
DEAD-box helicase 20
There are no transcripts associated with this gene.

Gene
KCND3
Gene Name
potassium voltage-gated channel subfamily D member 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004980.4 2311 Missense Mutation ACC,ATC T614I NP_004971.2
NM_172198.2 2311 Missense Mutation ACC,ATC T595I NP_751948.1
XM_005270851.4 2311 Missense Mutation ACC,ATC T614I XP_005270908.1
XM_006710629.3 2311 Missense Mutation ACC,ATC T614I XP_006710692.1
XM_006710630.3 2311 Missense Mutation ACC,ATC T595I XP_006710693.1
XM_006710631.3 2311 UTR 3 XP_006710694.1
XM_006710632.3 2311 Intron XP_006710695.1
XM_011541425.2 2311 Intron XP_011539727.1
XM_011541426.2 2311 Intron XP_011539728.1
XM_011541427.2 2311 Intron XP_011539729.1
XM_011541428.2 2311 Intron XP_011539730.1
XM_017001244.1 2311 Missense Mutation ACC,ATC T614I XP_016856733.1
XM_017001245.1 2311 Intron XP_016856734.1

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