Product Details

SNP ID
rs139030411
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:8369243 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGATCTGTCTGCTCCAATCTCAGCC[C/T]TTTCTTCCTGCCTGATCCAAAGGCT
Phenotype
MIM: 603704
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KRBA2 PubMed Links

Gene Details

Gene
KRBA2
Gene Name
KRAB-A domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304947.1 2622 Missense Mutation AAG,AGG K375R NP_001291876.1
NM_213597.3 2622 Missense Mutation AAG,AGG K457R NP_998762.1
XM_005256443.2 2622 Missense Mutation AAG,AGG K423R XP_005256500.1
XM_011523643.1 2622 Missense Mutation AAG,AGG K423R XP_011521945.1
XM_011523644.1 2622 Missense Mutation AAG,AGG K423R XP_011521946.1
XM_017024163.1 2622 Missense Mutation AAG,AGG K423R XP_016879652.1
XM_017024164.1 2622 Missense Mutation AAG,AGG K420R XP_016879653.1
XM_017024165.1 2622 Missense Mutation AAG,AGG K375R XP_016879654.1
Gene
LOC100128288
Gene Name
uncharacterized LOC100128288
There are no transcripts associated with this gene.

Gene
RPL26
Gene Name
ribosomal protein L26
There are no transcripts associated with this gene.

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