Product Details

SNP ID

rs143884158

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:76733659 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGACATACAGTTGAAATGCTGGT[A/C]ATTTCCTTTGCAAAGGACAGTCTCT

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080510.4	990	Silent Mutation	GTA,GTC	V182V	NP_001073979.3
NM_001206983.2	990	Silent Mutation	GTA,GTC	V182V	NP_001193912.1
NM_001206984.2	990	Silent Mutation	GTA,GTC	V182V	NP_001193913.1
NM_001206985.2	990	Silent Mutation	GTA,GTC	V115V	NP_001193914.1
NM_001206986.2	990	Silent Mutation	GTA,GTC	V115V	NP_001193915.1
NM_001206987.2	990	Silent Mutation	GTA,GTC	V115V	NP_001193916.1
NM_001302703.1	990	Silent Mutation	GTA,GTC	V182V	NP_001289632.1
NM_001302704.1	990	Silent Mutation	GTA,GTC	V115V	NP_001289633.1
NM_001302705.1	990	Silent Mutation	GTA,GTC	V178V	NP_001289634.1
XM_006721674.3	990	Silent Mutation	GTA,GTC	V182V	XP_006721737.1
XM_006721675.1	990	Silent Mutation	GTA,GTC	V178V	XP_006721738.1
XM_006721676.3	990	Silent Mutation	GTA,GTC	V178V	XP_006721739.1
XM_006721678.3	990	Silent Mutation	GTA,GTC	V178V	XP_006721741.1
XM_006721679.3	990	Silent Mutation	GTA,GTC	V171V	XP_006721742.1
XM_006721680.2	990	Silent Mutation	GTA,GTC	V115V	XP_006721743.1
XM_011524282.1	990	Silent Mutation	GTA,GTC	V178V	XP_011522584.1
XM_017024145.1	990	UTR 3			XP_016879634.1
XM_017024146.1	990	Silent Mutation	GTA,GTC	V206V	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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001195427.1	990	Intron			NP_001182356.1
NM_003016.4	990	Intron			NP_003007.2
XM_017024942.1	990	Intron			XP_016880431.1

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