Product Details

SNP ID
rs4930624
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:68903951 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TTCTAGGGGCCCAGGCCGGCGGCGG[C/T]GATGGCCTCGGCAGCTGTGGAGAGC
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_002180.2 101 UTR 5 NP_002171.2
XM_005273974.2 101 UTR 5 XP_005274031.1
XM_005273975.3 101 Intron XP_005274032.1
XM_005273976.1 101 UTR 5 XP_005274033.1
XM_011544994.1 101 Intron XP_011543296.1
XM_017017669.1 101 UTR 5 XP_016873158.1
XM_017017670.1 101 Intron XP_016873159.1
XM_017017671.1 101 UTR 5 XP_016873160.1
Gene
MRPL21
Gene Name
mitochondrial ribosomal protein L21
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_181514.1 101 Intron NP_852615.1
NM_181515.1 101 Intron NP_852616.1
XM_005273823.4 101 Intron XP_005273880.1

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