Product Details

SNP ID

rs113162506

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:99399062 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAAAATCTCTTTCTCACCTAAGC[A/G]CAATTTGATGGCCATTTTTGCACGA

Phenotype

MIM: 615671

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SETD3 PubMed Links

Gene Details

Gene

SETD3

Gene Name

SET domain containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032233.2	1420	Missense Mutation	CGC,TGC	R468C	NP_115609.2
NM_199123.1	1420	Intron			NP_954574.1
XM_005268127.3	1420	Missense Mutation	CGC,TGC	R369C	XP_005268184.1
XM_011537231.2	1420	Missense Mutation	CGC,TGC	R468C	XP_011535533.2
XM_011537232.2	1420	Missense Mutation	CGC,TGC	R468C	XP_011535534.1
XM_011537233.2	1420	Missense Mutation	CGC,TGC	R410C	XP_011535535.1
XM_011537234.1	1420	Missense Mutation	CGC,TGC	R369C	XP_011535536.1
XM_011537235.1	1420	Intron			XP_011535537.1
XM_017021699.1	1420	Missense Mutation	CGC,TGC	R468C	XP_016877188.1
XM_017021700.1	1420	Missense Mutation	CGC,TGC	R468C	XP_016877189.1
XM_017021701.1	1420	Missense Mutation	CGC,TGC	R410C	XP_016877190.1
XM_017021702.1	1420	Missense Mutation	CGC,TGC	R311C	XP_016877191.1

View Full Product Details