Product Details

SNP ID
rs78489122
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:41850920 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTCGGACGGTGCTGCAAACAGGA[C/T]CTCTGCCCCACTGGTCAGCCTGGCA
Phenotype
MIM: 606088 MIM: 605916
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
JMJD7-PLA2G4B PubMed Links

Gene Details

Gene
JMJD7-PLA2G4B
Gene Name
JMJD7-PLA2G4B readthrough
There are no transcripts associated with this gene.

Gene
PLA2G4B
Gene Name
phospholipase A2 group IVB
There are no transcripts associated with this gene.

Gene
SPTBN5
Gene Name
spectrin beta, non-erythrocytic 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_016642.3 11061 Missense Mutation ATC,GTC I3619V NP_057726.4
XM_017022299.1 11061 Missense Mutation ATC,GTC I3679V XP_016877788.1
XM_017022300.1 11061 Missense Mutation ATC,GTC I3639V XP_016877789.1
XM_017022301.1 11061 Missense Mutation ATC,GTC I3387V XP_016877790.1
XM_017022302.1 11061 Missense Mutation ATC,GTC I2738V XP_016877791.1
XM_017022303.1 11061 Intron XP_016877792.1
XM_017022304.1 11061 Intron XP_016877793.1
XM_017022305.1 11061 Intron XP_016877794.1

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