Product Details

SNP ID
rs184189502
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:41851288 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCCTACCCCGCCTGGTACCTCCG[C/T]TGCCATCCTCTCATCCAGGAACAGG
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 10944 Missense Mutation ACG,GCG T3580A NP_057726.4
XM_017022299.1 10944 Missense Mutation ACG,GCG T3640A XP_016877788.1
XM_017022300.1 10944 Missense Mutation ACG,GCG T3600A XP_016877789.1
XM_017022301.1 10944 Missense Mutation ACG,GCG T3348A XP_016877790.1
XM_017022302.1 10944 Missense Mutation ACG,GCG T2699A XP_016877791.1
XM_017022303.1 10944 Intron XP_016877792.1
XM_017022304.1 10944 Intron XP_016877793.1
XM_017022305.1 10944 Intron XP_016877794.1

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