Product Details

SNP ID
rs138832237
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:151286366 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACATCCCTGACATTGATGCGAATGA[A/C]GCCATCCATTCTGGGCCAGAAGAAA
Phenotype
MIM: 602758 MIM: 610568
Polymorphism
A/C, Transversion 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_001304763.1 377 Missense Mutation GAA,GAC E25D NP_001291692.1
NM_001304764.1 377 Missense Mutation GAA,GAC E25D NP_001291693.1
NM_020832.2 377 Missense Mutation GAA,GAC E25D NP_065883.1
XM_005245366.3 377 Missense Mutation GAA,GAC E34D XP_005245423.1
XM_011509811.2 377 Missense Mutation GAA,GAC E25D XP_011508113.1
XM_011509812.2 377 Missense Mutation GAA,GAC E25D XP_011508114.1
XM_011509813.2 377 Missense Mutation GAA,GAC E25D XP_011508115.1

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