Product Details

SNP ID

rs148873333

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:76733062 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGTCAGACAGCTCAGAACTGCCT[C/G]ACTGTCTGGAAGTCTGTCGGCAAAG

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	613	Missense Mutation	CAC,GAC	H57D	NP_001073979.3
NM_001206983.2	613	Missense Mutation	CAC,GAC	H57D	NP_001193912.1
NM_001206984.2	613	Missense Mutation	CAC,GAC	H57D	NP_001193913.1
NM_001206985.2	613	UTR 5			NP_001193914.1
NM_001206986.2	613	UTR 5			NP_001193915.1
NM_001206987.2	613	UTR 5			NP_001193916.1
NM_001302703.1	613	Missense Mutation	CAC,GAC	H57D	NP_001289632.1
NM_001302704.1	613	UTR 5			NP_001289633.1
NM_001302705.1	613	Missense Mutation	CAC,GAC	H53D	NP_001289634.1
XM_006721674.3	613	Missense Mutation	CAC,GAC	H57D	XP_006721737.1
XM_006721675.1	613	Missense Mutation	CAC,GAC	H53D	XP_006721738.1
XM_006721676.3	613	Missense Mutation	CAC,GAC	H53D	XP_006721739.1
XM_006721678.3	613	Missense Mutation	CAC,GAC	H53D	XP_006721741.1
XM_006721679.3	613	Missense Mutation	CAC,GAC	H46D	XP_006721742.1
XM_006721680.2	613	UTR 5			XP_006721743.1
XM_011524282.1	613	Missense Mutation	CAC,GAC	H53D	XP_011522584.1
XM_017024145.1	613	Missense Mutation	CAC,GAC	H53D	XP_016879634.1
XM_017024146.1	613	Missense Mutation	CAC,GAC	H81D	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

There are no transcripts associated with this gene.

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