Product Details

SNP ID
rs199996727
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:100538507 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACGCTCAGGGGACGCCACTGGCCC[C/T]TCATGTCCTCCCCGGGGAGCCGGGC
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BEGAIN PubMed Links

Gene Details

Gene
BEGAIN
Gene Name
brain enriched guanylate kinase associated
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001159531.1 1532 Missense Mutation AAG,AGG K415R NP_001153003.1
NM_020836.3 1532 Missense Mutation AAG,AGG K415R NP_065887.1
XM_005267919.3 1532 Missense Mutation AAG,AGG K428R XP_005267976.1
XM_005267920.4 1532 Missense Mutation AAG,AGG K427R XP_005267977.1
XM_005267921.3 1532 Missense Mutation AAG,AGG K415R XP_005267978.1
XM_011537031.1 1532 Missense Mutation AAG,AGG K434R XP_011535333.1
XM_017021521.1 1532 Missense Mutation AAG,AGG K415R XP_016877010.1
XM_017021522.1 1532 Missense Mutation AAG,AGG K406R XP_016877011.1
Gene
WDR25
Gene Name
WD repeat domain 25
There are no transcripts associated with this gene.

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