Product Details

SNP ID
rs202219513
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:12904649 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGTCCCGACTTCCCTTCCAGGACC[A/G]TCAGCTGGCAACTGGCACTGGAGGT
Phenotype
MIM: 608801 MIM: 611487
Polymorphism
A/G, 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_000159.3 164 Intron NP_000150.1
NM_013976.3 164 Intron NP_039663.1
XM_006722721.2 164 Intron XP_006722784.1
XM_011527899.2 164 Intron XP_011526201.1
XM_011527900.2 164 Intron XP_011526202.1
XM_017026580.1 164 Intron XP_016882069.1
Gene
SYCE2
Gene Name
synaptonemal complex central element protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001105578.1 164 Missense Mutation ACG,ATG T50M NP_001099048.1
XM_005259848.4 164 Missense Mutation ACG,ATG T50M XP_005259905.1
XM_011527882.2 164 Missense Mutation ACG,ATG T50M XP_011526184.1
XM_011527883.2 164 Missense Mutation ACG,ATG T50M XP_011526185.1

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