Product Details

SNP ID

rs201197454

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:76736386 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGAACGAGTGCGGGACCGAGACTT[C/T]GAGCGGCTGTAGCGAGATCGGCTGC

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

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	692	Intron			NP_001229461.1
NM_001242533.1	692	Intron			NP_001229462.1
NM_001242534.1	692	Intron			NP_001229463.1
NM_001242535.1	692	Intron			NP_001229464.1
NM_001242536.1	692	Intron			NP_001229465.1
NM_001242537.1	692	Intron			NP_001229466.1
NM_024311.3	692	Intron			NP_077287.1
XM_011525236.2	692	Intron			XP_011523538.1
XM_011525237.2	692	Intron			XP_011523539.2
XM_011525238.2	692	Intron			XP_011523540.2
XM_011525239.2	692	Intron			XP_011523541.2
XM_011525240.2	692	Intron			XP_011523542.2
XM_011525241.2	692	Intron			XP_011523543.2
XM_011525242.1	692	Intron			XP_011523544.1
XM_011525244.1	692	Intron			XP_011523546.1
XM_011525247.2	692	Intron			XP_011523549.2
XM_017025065.1	692	Intron			XP_016880554.1
XM_017025066.1	692	Intron			XP_016880555.1
XM_017025067.1	692	Intron			XP_016880556.1
XM_017025068.1	692	Intron			XP_016880557.1
XM_017025069.1	692	Intron			XP_016880558.1
XM_017025070.1	692	Intron			XP_016880559.1
XM_017025071.1	692	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	692	Silent Mutation	TCA,TCG	S147S	NP_001182356.1
NM_003016.4	692	Silent Mutation	TCA,TCG	S147S	NP_003007.2
XM_017024942.1	692	Silent Mutation	TCA,TCG	S147S	XP_016880431.1

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