Product Details

SNP ID
rs200279768
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:183020149 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATTACCTTTTCAATGGTTCCAGTC[A/T]TAGGAGCTAAGGGGCCGCCCTGAGT
Phenotype
MIM: 609010
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
MCCC1 PubMed Links

Gene Details

Gene
MCCC1
Gene Name
methylcrotonoyl-CoA carboxylase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001293273.1 1911 Missense Mutation AAG,ATG K536M NP_001280202.1
NM_020166.4 1911 Missense Mutation AAG,ATG K653M NP_064551.3
XM_006713702.1 1911 Missense Mutation AAG,ATG K544M XP_006713765.1
XM_011512992.2 1911 Missense Mutation AAG,ATG K615M XP_011511294.1
XM_011512993.1 1911 Intron XP_011511295.1
XM_017006874.1 1911 Missense Mutation AAG,ATG K544M XP_016862363.1
XM_017006875.1 1911 Missense Mutation AAG,ATG K544M XP_016862364.1

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