Product Details

SNP ID
rs148596667
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:12891917 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAGATCCTCATCAGGGACACCTTC[C/T]GCACCTACTGCCAGGAGAGACTCAT
Phenotype
MIM: 608801 MIM: 600599 MIM: 611487
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GCDH PubMed Links

Gene Details

Gene
GCDH
Gene Name
glutaryl-CoA dehydrogenase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000159.3 291 Missense Mutation CGC,TGC R72C NP_000150.1
NM_013976.3 291 Missense Mutation CGC,TGC R72C NP_039663.1
XM_006722721.2 291 Missense Mutation CGC,TGC R72C XP_006722784.1
XM_011527899.2 291 Missense Mutation CGC,TGC R72C XP_011526201.1
XM_011527900.2 291 Missense Mutation CGC,TGC R72C XP_011526202.1
XM_017026580.1 291 Missense Mutation CGC,TGC R72C XP_016882069.1
Gene
KLF1
Gene Name
Kruppel like factor 1
There are no transcripts associated with this gene.

Gene
SYCE2
Gene Name
synaptonemal complex central element protein 2
There are no transcripts associated with this gene.

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