Product Details

SNP ID
rs143389743
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:64254932 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCCGGGAAGTTCTGGGCTTTGGGG[A/G]TCCCGATGCCCGGCTGGAGGAGAAG
Phenotype
MIM: 600230 MIM: 601140
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
LOC105369340 PubMed Links

Gene Details

Gene
LOC105369340
Gene Name
uncharacterized LOC105369340
There are no transcripts associated with this gene.

Gene
PLCB3
Gene Name
phospholipase C beta 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000932.2 408 Missense Mutation GAT,GGT D94G NP_000923.1
NM_001184883.1 408 Intron NP_001171812.1
NM_001316314.1 408 Missense Mutation GAT,GGT D94G NP_001303243.1
XM_011545101.2 408 Missense Mutation GAT,GGT D94G XP_011543403.1
XM_017017925.1 408 Missense Mutation GAT,GGT D94G XP_016873414.1
Gene
PPP1R14B
Gene Name
protein phosphatase 1 regulatory inhibitor subunit 14B
There are no transcripts associated with this gene.

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