Product Details

SNP ID
rs188858987
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:37808065 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCAGCTGCGTGGCATTCTGGAGG[A/G]GGAGCTGGAAGGCATCCGCGGAGCT
Phenotype
MIM: 607422 MIM: 142708
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GCAT PubMed Links

Gene Details

Gene
GCAT
Gene Name
glycine C-acetyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001171690.1 154 Missense Mutation GAG,GGG E33G NP_001165161.1
NM_014291.3 154 Intron NP_055106.1
XM_005261409.3 154 Intron XP_005261466.1
XM_005261410.3 154 Intron XP_005261467.1
XM_005261411.1 154 Intron XP_005261468.1
XM_011530023.1 154 Intron XP_011528325.1
XM_017028674.1 154 Intron XP_016884163.1
XM_017028675.1 154 Intron XP_016884164.1
XM_017028676.1 154 Intron XP_016884165.1
XM_017028677.1 154 Missense Mutation GAG,GGG E33G XP_016884166.1
Gene
H1F0
Gene Name
H1 histone family member 0
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005318.3 154 Intron NP_005309.1

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