Product Details

SNP ID

rs147402736

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:109483610 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCATCGATAGAGCCCGTCAGGCAC[A/G]AGAAGAAAGGCTTGTGCAGAAGGAA

Phenotype

MIM: 613421 MIM: 608047

Polymorphism

A/G, Transition 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	328	Missense Mutation	CAA,CGA	Q20R	NP_001257378.1
NM_001270450.1	328	Missense Mutation	CAA,CGA	Q20R	NP_001257379.1
NM_001270451.1	328	Missense Mutation	CAA,CGA	Q20R	NP_001257380.1
NM_130466.3	328	Missense Mutation	CAA,CGA	Q20R	NP_569733.2
NM_183415.2	328	Missense Mutation	CAA,CGA	Q20R	NP_904324.1
XM_005253987.2	328	Missense Mutation	CAA,CGA	Q20R	XP_005254044.1
XM_006719681.3	328	Missense Mutation	CAA,CGA	Q20R	XP_006719744.1
XM_006719682.2	328	Missense Mutation	CAA,CGA	Q20R	XP_006719745.1
XM_011538959.2	328	Missense Mutation	CAA,CGA	Q20R	XP_011537261.1
XM_011538961.1	328	Missense Mutation	CAA,CGA	Q20R	XP_011537263.1
XM_017020195.1	328	UTR 5			XP_016875684.1
XM_017020196.1	328	Missense Mutation	CAA,CGA	Q20R	XP_016875685.1

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