Product Details

SNP ID
rs200514887
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.16:681845 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGAGGGTGATGAGGACGACAGCCAC[A/G]TCCGGGCCCAGCAGGCCTGCATTGA
Phenotype
MIM: 603264 MIM: 613889 MIM: 607207
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
JMJD8 PubMed Links

Gene Details

Gene
JMJD8
Gene Name
jumonji domain containing 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001005920.2 1866 UTR 3 NP_001005920.2
NM_001323918.1 1866 UTR 3 NP_001310847.1
NM_001323919.1 1866 UTR 3 NP_001310848.1
NM_001323920.1 1866 UTR 3 NP_001310849.1
NM_001323922.1 1866 UTR 3 NP_001310851.1
Gene
LOC105371184
Gene Name
uncharacterized LOC105371184
There are no transcripts associated with this gene.

Gene
RHBDL1
Gene Name
rhomboid like 1
There are no transcripts associated with this gene.

Gene
RHOT2
Gene Name
ras homolog family member T2
There are no transcripts associated with this gene.

Gene
STUB1
Gene Name
STIP1 homology and U-box containing protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001293197.1 1866 Missense Mutation ATC,GTC I121V NP_001280126.1
NM_005861.3 1866 Missense Mutation ATC,GTC I193V NP_005852.2
Gene
WDR24
Gene Name
WD repeat domain 24
There are no transcripts associated with this gene.

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