Product Details

SNP ID
rs35706839
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:183015467 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCGATTCCCTTTTGTCTGATTCTT[C/T]CTCCTCAAACTCGACTAAAGGAGTG
Phenotype
MIM: 609010
Polymorphism
C/T, Transition 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 2102 Missense Mutation AAA,GAA K600E NP_001280202.1
NM_020166.4 2102 Missense Mutation AAA,GAA K717E NP_064551.3
XM_006713702.1 2102 Missense Mutation AAA,GAA K608E XP_006713765.1
XM_011512992.2 2102 Missense Mutation AAA,GAA K679E XP_011511294.1
XM_011512993.1 2102 Intron XP_011511295.1
XM_017006874.1 2102 Missense Mutation AAA,GAA K608E XP_016862363.1
XM_017006875.1 2102 Missense Mutation AAA,GAA K608E XP_016862364.1

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