Product Details

SNP ID

rs200114053

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:109483663 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGCGGGCAGCTGTTGTGATCCAG[G/T]CCCATGTCCGGAGTTTTCTCTGTCG

Phenotype

MIM: 613421 MIM: 608047

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

KCTD10 PubMed Links

Gene Details

Gene

KCTD10

Gene Name

potassium channel tetramerization domain containing 10

There are no transcripts associated with this gene.

Gene

UBE3B

Gene Name

ubiquitin protein ligase E3B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270449.1	381	Missense Mutation	GCC,TCC	A38S	NP_001257378.1
NM_001270450.1	381	Missense Mutation	GCC,TCC	A38S	NP_001257379.1
NM_001270451.1	381	Missense Mutation	GCC,TCC	A38S	NP_001257380.1
NM_130466.3	381	Missense Mutation	GCC,TCC	A38S	NP_569733.2
NM_183415.2	381	Missense Mutation	GCC,TCC	A38S	NP_904324.1
XM_005253987.2	381	Missense Mutation	GCC,TCC	A38S	XP_005254044.1
XM_006719681.3	381	Missense Mutation	GCC,TCC	A38S	XP_006719744.1
XM_006719682.2	381	Missense Mutation	GCC,TCC	A38S	XP_006719745.1
XM_011538959.2	381	Missense Mutation	GCC,TCC	A38S	XP_011537261.1
XM_011538961.1	381	Missense Mutation	GCC,TCC	A38S	XP_011537263.1
XM_017020195.1	381	UTR 5			XP_016875684.1
XM_017020196.1	381	Missense Mutation	GCC,TCC	A38S	XP_016875685.1

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