Product Details

SNP ID
rs147321492
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:76733682 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCATTTCCTTTGCAAAGGACAGTC[C/T]CTGAATTATACCTACAACCTGTTCT
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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080510.4 1013 Missense Mutation CCC,CTC P190L NP_001073979.3
NM_001206983.2 1013 Missense Mutation CCC,CTC P190L NP_001193912.1
NM_001206984.2 1013 Missense Mutation CCC,CTC P190L NP_001193913.1
NM_001206985.2 1013 Missense Mutation CCC,CTC P123L NP_001193914.1
NM_001206986.2 1013 Missense Mutation CCC,CTC P123L NP_001193915.1
NM_001206987.2 1013 Missense Mutation CCC,CTC P123L NP_001193916.1
NM_001302703.1 1013 Missense Mutation CCC,CTC P190L NP_001289632.1
NM_001302704.1 1013 Missense Mutation CCC,CTC P123L NP_001289633.1
NM_001302705.1 1013 Missense Mutation CCC,CTC P186L NP_001289634.1
XM_006721674.3 1013 Missense Mutation CCC,CTC P190L XP_006721737.1
XM_006721675.1 1013 Missense Mutation CCC,CTC P186L XP_006721738.1
XM_006721676.3 1013 Missense Mutation CCC,CTC P186L XP_006721739.1
XM_006721678.3 1013 Missense Mutation CCC,CTC P186L XP_006721741.1
XM_006721679.3 1013 Missense Mutation CCC,CTC P179L XP_006721742.1
XM_006721680.2 1013 Missense Mutation CCC,CTC P123L XP_006721743.1
XM_011524282.1 1013 Missense Mutation CCC,CTC P186L XP_011522584.1
XM_017024145.1 1013 UTR 3 XP_016879634.1
XM_017024146.1 1013 Missense Mutation CCC,CTC P214L 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 1013 Intron NP_001182356.1
NM_003016.4 1013 Intron NP_003007.2
XM_017024942.1 1013 Intron XP_016880431.1

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