Product Details

SNP ID
rs139743519
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:151286540 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACCGCCAGACATTTCTGTAGTCAG[C/T]GTCATTGTCAAGAACACTGTGTGTC
Phenotype
MIM: 602758 MIM: 610568
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LOC100507670 PubMed Links

Gene Details

Gene
LOC100507670
Gene Name
uncharacterized LOC100507670
There are no transcripts associated with this gene.

Gene
PI4KB
Gene Name
phosphatidylinositol 4-kinase beta
There are no transcripts associated with this gene.

Gene
ZNF687
Gene Name
zinc finger protein 687
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304763.1 551 Silent Mutation AGC,AGT S83S NP_001291692.1
NM_001304764.1 551 Silent Mutation AGC,AGT S83S NP_001291693.1
NM_020832.2 551 Silent Mutation AGC,AGT S83S NP_065883.1
XM_005245366.3 551 Silent Mutation AGC,AGT S92S XP_005245423.1
XM_011509811.2 551 Silent Mutation AGC,AGT S83S XP_011508113.1
XM_011509812.2 551 Silent Mutation AGC,AGT S83S XP_011508114.1
XM_011509813.2 551 Silent Mutation AGC,AGT S83S XP_011508115.1

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