Product Details

SNP ID
rs201649839
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:68906148 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGAAGCTGCAGGTATCCAGCCAG[C/T]GCACTGGGCTGTACGGACGGCTGCT
Phenotype
MIM: 600502 MIM: 611834
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
IGHMBP2 PubMed Links

Gene Details

Gene
IGHMBP2
Gene Name
immunoglobulin mu binding protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002180.2 268 Missense Mutation CGC,TGC R56C NP_002171.2
XM_005273974.2 268 UTR 5 XP_005274031.1
XM_005273975.3 268 Intron XP_005274032.1
XM_005273976.1 268 Missense Mutation CGC,TGC R56C XP_005274033.1
XM_011544994.1 268 Intron XP_011543296.1
XM_017017669.1 268 UTR 5 XP_016873158.1
XM_017017670.1 268 Intron XP_016873159.1
XM_017017671.1 268 Missense Mutation CGC,TGC R56C XP_016873160.1
Gene
MRPL21
Gene Name
mitochondrial ribosomal protein L21
There are no transcripts associated with this gene.

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