Product Details

SNP ID
rs182895790
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.15:41851078 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCACCTTAAGGAGAATGTGTGTT[C/T]CCTGCCGTGGCGGCCCCGCAGCCTC
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 11022 Missense Mutation AAA,GAA K3606E NP_057726.4
XM_017022299.1 11022 Missense Mutation AAA,GAA K3666E XP_016877788.1
XM_017022300.1 11022 Missense Mutation AAA,GAA K3626E XP_016877789.1
XM_017022301.1 11022 Missense Mutation AAA,GAA K3374E XP_016877790.1
XM_017022302.1 11022 Missense Mutation AAA,GAA K2725E XP_016877791.1
XM_017022303.1 11022 Intron XP_016877792.1
XM_017022304.1 11022 Intron XP_016877793.1
XM_017022305.1 11022 Intron XP_016877794.1

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