Product Details

SNP ID

rs201990497

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:76726432 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGAGTCCTTGAGCTCCGGCCGCGCA[C/T]TCCGCTTGGCCTCGCGGATGCGCTT

Phenotype

MIM: 604914 MIM: 615262 MIM: 600813

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

JMJD6 PubMed Links

Gene Details

Gene

JMJD6

Gene Name

arginine demethylase and lysine hydroxylase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001081461.1	368	Missense Mutation			NP_001074930.1
NM_015167.2	368	Missense Mutation			NP_055982.2

Gene

METTL23

Gene Name

methyltransferase like 23

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080510.4	368	Intron			NP_001073979.3
NM_001206983.2	368	Intron			NP_001193912.1
NM_001206984.2	368	Intron			NP_001193913.1
NM_001206985.2	368	Intron			NP_001193914.1
NM_001206986.2	368	Intron			NP_001193915.1
NM_001206987.2	368	Intron			NP_001193916.1
NM_001302703.1	368	Intron			NP_001289632.1
NM_001302704.1	368	Intron			NP_001289633.1
NM_001302705.1	368	Intron			NP_001289634.1
XM_006721674.3	368	Intron			XP_006721737.1
XM_006721675.1	368	Intron			XP_006721738.1
XM_006721676.3	368	Intron			XP_006721739.1
XM_006721678.3	368	Intron			XP_006721741.1
XM_006721679.3	368	Intron			XP_006721742.1
XM_006721680.2	368	Intron			XP_006721743.1
XM_011524282.1	368	Intron			XP_011522584.1
XM_017024145.1	368	Intron			XP_016879634.1
XM_017024146.1	368	Intron			XP_016879635.1

Gene

SRSF2

Gene Name

serine and arginine rich splicing factor 2

There are no transcripts associated with this gene.

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