Product Details

SNP ID
rs145438308
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:71599705 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGTTTGCAGGTTACCAGTTATAT[A/G]ACAATGAGGAGGTGCCAGGAGGTGG
Phenotype
MIM: 609014
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MCCC2 PubMed Links

Gene Details

Gene
MCCC2
Gene Name
methylcrotonoyl-CoA carboxylase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022132.4 466 Missense Mutation AAC,GAC N110D NP_071415.1
XM_005248567.1 466 Missense Mutation AAC,GAC N110D XP_005248624.1
XM_011543529.2 466 Missense Mutation AAC,GAC N110D XP_011541831.1
XM_017009688.1 466 Missense Mutation AAC,GAC N110D XP_016865177.1

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