Product Details

SNP ID

rs114299201

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:76733029 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATTTTGGCTGCCAAATGTGGTGCA[C/G]AAGTAATACTGTCAGACAGCTCAGA

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	580	Missense Mutation	CAA,GAA	Q46E	NP_001073979.3
NM_001206983.2	580	Missense Mutation	CAA,GAA	Q46E	NP_001193912.1
NM_001206984.2	580	Missense Mutation	CAA,GAA	Q46E	NP_001193913.1
NM_001206985.2	580	UTR 5			NP_001193914.1
NM_001206986.2	580	UTR 5			NP_001193915.1
NM_001206987.2	580	UTR 5			NP_001193916.1
NM_001302703.1	580	Missense Mutation	CAA,GAA	Q46E	NP_001289632.1
NM_001302704.1	580	UTR 5			NP_001289633.1
NM_001302705.1	580	Missense Mutation	CAA,GAA	Q42E	NP_001289634.1
XM_006721674.3	580	Missense Mutation	CAA,GAA	Q46E	XP_006721737.1
XM_006721675.1	580	Missense Mutation	CAA,GAA	Q42E	XP_006721738.1
XM_006721676.3	580	Missense Mutation	CAA,GAA	Q42E	XP_006721739.1
XM_006721678.3	580	Missense Mutation	CAA,GAA	Q42E	XP_006721741.1
XM_006721679.3	580	Missense Mutation	CAA,GAA	Q35E	XP_006721742.1
XM_006721680.2	580	UTR 5			XP_006721743.1
XM_011524282.1	580	Missense Mutation	CAA,GAA	Q42E	XP_011522584.1
XM_017024145.1	580	Missense Mutation	CAA,GAA	Q42E	XP_016879634.1
XM_017024146.1	580	Missense Mutation	CAA,GAA	Q70E	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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