Product Details

SNP ID
rs149420099
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:41851129 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCACACCGGGCTCCCGTGAGGTCAA[C/G]GAGGGCTATGGAAGCTACTTTCTGA
Phenotype
MIM: 606088 MIM: 605916
Polymorphism
C/G, Transversion 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 10971 Missense Mutation CTT,GTT L3589V NP_057726.4
XM_017022299.1 10971 Missense Mutation CTT,GTT L3649V XP_016877788.1
XM_017022300.1 10971 Missense Mutation CTT,GTT L3609V XP_016877789.1
XM_017022301.1 10971 Missense Mutation CTT,GTT L3357V XP_016877790.1
XM_017022302.1 10971 Missense Mutation CTT,GTT L2708V XP_016877791.1
XM_017022303.1 10971 Intron XP_016877792.1
XM_017022304.1 10971 Intron XP_016877793.1
XM_017022305.1 10971 Intron XP_016877794.1

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