Product Details

SNP ID

rs777158919

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:76733376 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTGTGGTCTACTTATCAAGTTAGG[A/G]GGCAAGTATGGATGACCCTTACTTT

Phenotype

MIM: 604914 MIM: 615262 MIM: 600813

Polymorphism

A/G, Transition 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	850	Missense Mutation	AGT,GGT	S136G	NP_001073979.3
NM_001206983.2	850	Missense Mutation	AGT,GGT	S136G	NP_001193912.1
NM_001206984.2	850	Missense Mutation	AGT,GGT	S136G	NP_001193913.1
NM_001206985.2	850	Missense Mutation	AGT,GGT	S69G	NP_001193914.1
NM_001206986.2	850	Missense Mutation	AGT,GGT	S69G	NP_001193915.1
NM_001206987.2	850	Missense Mutation	AGT,GGT	S69G	NP_001193916.1
NM_001302703.1	850	Missense Mutation	AGT,GGT	S136G	NP_001289632.1
NM_001302704.1	850	Missense Mutation	AGT,GGT	S69G	NP_001289633.1
NM_001302705.1	850	Missense Mutation	AGT,GGT	S132G	NP_001289634.1
XM_006721674.3	850	Missense Mutation	AGT,GGT	S136G	XP_006721737.1
XM_006721675.1	850	Missense Mutation	AGT,GGT	S132G	XP_006721738.1
XM_006721676.3	850	Missense Mutation	AGT,GGT	S132G	XP_006721739.1
XM_006721678.3	850	Missense Mutation	AGT,GGT	S132G	XP_006721741.1
XM_006721679.3	850	Missense Mutation	AGT,GGT	S125G	XP_006721742.1
XM_006721680.2	850	Missense Mutation	AGT,GGT	S69G	XP_006721743.1
XM_011524282.1	850	Missense Mutation	AGT,GGT	S132G	XP_011522584.1
XM_017024145.1	850	Missense Mutation	AGG,GGG	R132G	XP_016879634.1
XM_017024146.1	850	Missense Mutation	AGT,GGT	S160G	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	850	Intron			NP_001182356.1
NM_003016.4	850	Intron			NP_003007.2
XM_017024942.1	850	Intron			XP_016880431.1

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