Product Details

SNP ID

rs201149370

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:76733318 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTTGAAGACATTTTGGCTACAAT[A/G]TATTTTTTGATGCACAAGAATCCCA

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	792	Missense Mutation	ATA,ATG	I116M	NP_001073979.3
NM_001206983.2	792	Missense Mutation	ATA,ATG	I116M	NP_001193912.1
NM_001206984.2	792	Missense Mutation	ATA,ATG	I116M	NP_001193913.1
NM_001206985.2	792	Missense Mutation	ATA,ATG	I49M	NP_001193914.1
NM_001206986.2	792	Missense Mutation	ATA,ATG	I49M	NP_001193915.1
NM_001206987.2	792	Missense Mutation	ATA,ATG	I49M	NP_001193916.1
NM_001302703.1	792	Missense Mutation	ATA,ATG	I116M	NP_001289632.1
NM_001302704.1	792	Missense Mutation	ATA,ATG	I49M	NP_001289633.1
NM_001302705.1	792	Missense Mutation	ATA,ATG	I112M	NP_001289634.1
XM_006721674.3	792	Missense Mutation	ATA,ATG	I116M	XP_006721737.1
XM_006721675.1	792	Missense Mutation	ATA,ATG	I112M	XP_006721738.1
XM_006721676.3	792	Missense Mutation	ATA,ATG	I112M	XP_006721739.1
XM_006721678.3	792	Missense Mutation	ATA,ATG	I112M	XP_006721741.1
XM_006721679.3	792	Missense Mutation	ATA,ATG	I105M	XP_006721742.1
XM_006721680.2	792	Missense Mutation	ATA,ATG	I49M	XP_006721743.1
XM_011524282.1	792	Missense Mutation	ATA,ATG	I112M	XP_011522584.1
XM_017024145.1	792	Missense Mutation	ATA,ATG	I112M	XP_016879634.1
XM_017024146.1	792	Missense Mutation	ATA,ATG	I140M	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	792	Intron			NP_001182356.1
NM_003016.4	792	Intron			NP_003007.2
XM_017024942.1	792	Intron			XP_016880431.1

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