Product Details

SNP ID
rs200154371
Assay Type
Functionally tested
NCBI dbSNP Submissions
7
Location
Chr.1:227732435 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCAACAGCCTCTCTCAGCTGCTGC[A/T]GCAGCTCTTTGGGCTGTGGTGAGAA
Phenotype
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
JMJD4 PubMed Links

Gene Details

Gene
JMJD4
Gene Name
jumonji domain containing 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001161465.1 285 Missense Mutation CAG,CTG Q434L NP_001154937.1
NM_023007.2 285 Missense Mutation CAG,CTG Q450L NP_075383.2
XM_011544262.2 285 Missense Mutation CAG,CTG Q401L XP_011542564.1
Gene
SNAP47
Gene Name
synaptosome associated protein 47
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001323930.1 285 Intron NP_001310859.1
NM_001323931.1 285 Intron NP_001310860.1
NM_001323932.1 285 Intron NP_001310861.1
NM_001323933.1 285 Intron NP_001310862.1
NM_001323934.1 285 Intron NP_001310863.1
NM_001323935.1 285 Intron NP_001310864.1
NM_053052.3 285 Intron NP_444280.2
XM_006711734.3 285 Intron XP_006711797.1
XM_017000231.1 285 UTR 5 XP_016855720.1
XM_017000232.1 285 UTR 5 XP_016855721.1

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