Product Details

SNP ID
rs78457808
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:24808418 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTTTCACGGTGCTCCTCATGCCTC[C/T]GCCCTCTGGGATCCCTTTGCCGTCT
Phenotype
MIM: 185490
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CCDC149 PubMed Links

Gene Details

Gene
CCDC149
Gene Name
coiled-coil domain containing 149
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
XM_005248210.3 1677 Missense Mutation AGA,GGA R532G XP_005248267.1
XM_011513906.2 1677 Missense Mutation AGA,GGA R532G XP_011512208.1
XM_011513907.2 1677 Missense Mutation AGA,GGA R477G XP_011512209.1
XM_011513908.1 1677 Missense Mutation AGA,GGA R477G XP_011512210.1
XM_017008827.1 1677 Missense Mutation AGA,GGA R521G XP_016864316.1
XM_017008828.1 1677 Missense Mutation AGA,GGA R466G XP_016864317.1
Gene
SOD3
Gene Name
superoxide dismutase 3, extracellular
There are no transcripts associated with this gene.

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