Product Details

SNP ID

rs139698167

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:99398772 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGATTGAGACTTTCATTTTCGGA[C/G]CTGGTCCCATTAGGGATAGAGTTTT

Phenotype

MIM: 615671

Polymorphism

C/G, Transversion 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	1710	Missense Mutation	AGC,AGG	S564R	NP_115609.2
NM_199123.1	1710	Intron			NP_954574.1
XM_005268127.3	1710	Missense Mutation	AGC,AGG	S465R	XP_005268184.1
XM_011537231.2	1710	Missense Mutation	AGC,AGG	S564R	XP_011535533.2
XM_011537232.2	1710	Missense Mutation	AGC,AGG	S564R	XP_011535534.1
XM_011537233.2	1710	Missense Mutation	AGC,AGG	S506R	XP_011535535.1
XM_011537234.1	1710	Missense Mutation	AGC,AGG	S465R	XP_011535536.1
XM_011537235.1	1710	Intron			XP_011535537.1
XM_017021699.1	1710	Missense Mutation	AGC,AGG	S564R	XP_016877188.1
XM_017021700.1	1710	Missense Mutation	AGC,AGG	S564R	XP_016877189.1
XM_017021701.1	1710	Missense Mutation	AGC,AGG	S506R	XP_016877190.1
XM_017021702.1	1710	Missense Mutation	AGC,AGG	S407R	XP_016877191.1

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