Product Details

SNP ID

rs145534754

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:76736270 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGGGAGGACTCCTGGACCGAGAC[A/C]GGGACCTGGACCGCGAACGAGATCT

Phenotype

MIM: 604914 MIM: 615262 MIM: 600813

Polymorphism

A/C, 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

There are no transcripts associated with this gene.

Gene

MFSD11

Gene Name

major facilitator superfamily domain containing 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242532.1	808	Intron			NP_001229461.1
NM_001242533.1	808	Intron			NP_001229462.1
NM_001242534.1	808	Intron			NP_001229463.1
NM_001242535.1	808	Intron			NP_001229464.1
NM_001242536.1	808	Intron			NP_001229465.1
NM_001242537.1	808	Intron			NP_001229466.1
NM_024311.3	808	Intron			NP_077287.1
XM_011525236.2	808	Intron			XP_011523538.1
XM_011525237.2	808	Intron			XP_011523539.2
XM_011525238.2	808	Intron			XP_011523540.2
XM_011525239.2	808	Intron			XP_011523541.2
XM_011525240.2	808	Intron			XP_011523542.2
XM_011525241.2	808	Intron			XP_011523543.2
XM_011525242.1	808	Intron			XP_011523544.1
XM_011525244.1	808	Intron			XP_011523546.1
XM_011525247.2	808	Intron			XP_011523549.2
XM_017025065.1	808	Intron			XP_016880554.1
XM_017025066.1	808	Intron			XP_016880555.1
XM_017025067.1	808	Intron			XP_016880556.1
XM_017025068.1	808	Intron			XP_016880557.1
XM_017025069.1	808	Intron			XP_016880558.1
XM_017025070.1	808	Intron			XP_016880559.1
XM_017025071.1	808	Intron			XP_016880560.1

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	808	Missense Mutation	CGG,CTG	R186L	NP_001182356.1
NM_003016.4	808	Missense Mutation	CGG,CTG	R186L	NP_003007.2
XM_017024942.1	808	Missense Mutation	CGG,CTG	R186L	XP_016880431.1

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