Product Details

SNP ID

rs143566718

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:76733152 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTAACATGGGGTCATATATCTTGG[C/G]ATCTTCTGGCTCTACCACCACAAGA

Phenotype

MIM: 604914 MIM: 615262 MIM: 600813

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

JMJD6 PubMed Links

Gene Details

Gene

JMJD6

Gene Name

arginine demethylase and lysine hydroxylase

There are no transcripts associated with this gene.

Gene

METTL23

Gene Name

methyltransferase like 23

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080510.4	703	Missense Mutation	CAT,GAT	H87D	NP_001073979.3
NM_001206983.2	703	Missense Mutation	CAT,GAT	H87D	NP_001193912.1
NM_001206984.2	703	Missense Mutation	CAT,GAT	H87D	NP_001193913.1
NM_001206985.2	703	Missense Mutation	CAT,GAT	H20D	NP_001193914.1
NM_001206986.2	703	Missense Mutation	CAT,GAT	H20D	NP_001193915.1
NM_001206987.2	703	Missense Mutation	CAT,GAT	H20D	NP_001193916.1
NM_001302703.1	703	Missense Mutation	CAT,GAT	H87D	NP_001289632.1
NM_001302704.1	703	Missense Mutation	CAT,GAT	H20D	NP_001289633.1
NM_001302705.1	703	Missense Mutation	CAT,GAT	H83D	NP_001289634.1
XM_006721674.3	703	Missense Mutation	CAT,GAT	H87D	XP_006721737.1
XM_006721675.1	703	Missense Mutation	CAT,GAT	H83D	XP_006721738.1
XM_006721676.3	703	Missense Mutation	CAT,GAT	H83D	XP_006721739.1
XM_006721678.3	703	Missense Mutation	CAT,GAT	H83D	XP_006721741.1
XM_006721679.3	703	Missense Mutation	CAT,GAT	H76D	XP_006721742.1
XM_006721680.2	703	Missense Mutation	CAT,GAT	H20D	XP_006721743.1
XM_011524282.1	703	Missense Mutation	CAT,GAT	H83D	XP_011522584.1
XM_017024145.1	703	Missense Mutation	CAT,GAT	H83D	XP_016879634.1
XM_017024146.1	703	Missense Mutation	CAT,GAT	H111D	XP_016879635.1

Gene

MFSD11

Gene Name

major facilitator superfamily domain containing 11

There are no transcripts associated with this gene.

Gene

MIR636

Gene Name

microRNA 636

There are no transcripts associated with this gene.

Gene

SRSF2

Gene Name

serine and arginine rich splicing factor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001195427.1	703	Intron			NP_001182356.1
NM_003016.4	703	Intron			NP_003007.2
XM_017024942.1	703	Intron			XP_016880431.1

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