Product Details

SNP ID

rs200067763

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:76733336 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTACAATATATTTTTTGATGCACAA[C/G]AATCCCAAGGTCCAATTGTGGTCTA

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	810	Missense Mutation	AAC,AAG	N122K	NP_001073979.3
NM_001206983.2	810	Missense Mutation	AAC,AAG	N122K	NP_001193912.1
NM_001206984.2	810	Missense Mutation	AAC,AAG	N122K	NP_001193913.1
NM_001206985.2	810	Missense Mutation	AAC,AAG	N55K	NP_001193914.1
NM_001206986.2	810	Missense Mutation	AAC,AAG	N55K	NP_001193915.1
NM_001206987.2	810	Missense Mutation	AAC,AAG	N55K	NP_001193916.1
NM_001302703.1	810	Missense Mutation	AAC,AAG	N122K	NP_001289632.1
NM_001302704.1	810	Missense Mutation	AAC,AAG	N55K	NP_001289633.1
NM_001302705.1	810	Missense Mutation	AAC,AAG	N118K	NP_001289634.1
XM_006721674.3	810	Missense Mutation	AAC,AAG	N122K	XP_006721737.1
XM_006721675.1	810	Missense Mutation	AAC,AAG	N118K	XP_006721738.1
XM_006721676.3	810	Missense Mutation	AAC,AAG	N118K	XP_006721739.1
XM_006721678.3	810	Missense Mutation	AAC,AAG	N118K	XP_006721741.1
XM_006721679.3	810	Missense Mutation	AAC,AAG	N111K	XP_006721742.1
XM_006721680.2	810	Missense Mutation	AAC,AAG	N55K	XP_006721743.1
XM_011524282.1	810	Missense Mutation	AAC,AAG	N118K	XP_011522584.1
XM_017024145.1	810	Missense Mutation	AAC,AAG	N118K	XP_016879634.1
XM_017024146.1	810	Missense Mutation	AAC,AAG	N146K	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	810	Intron			NP_001182356.1
NM_003016.4	810	Intron			NP_003007.2
XM_017024942.1	810	Intron			XP_016880431.1

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