Product Details

SNP ID
rs200625260
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:37812977 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCAGCTGTTATGACGCCAACGCC[C/G]GCCTCTTTGAGGTGTGTGGAAGCTG
Phenotype
MIM: 607422 MIM: 142708
Polymorphism
C/G, Transversion 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_001171690.1 474 Missense Mutation CGC,GGC R166G NP_001165161.1
NM_014291.3 474 Intron NP_055106.1
XM_005261409.3 474 Intron XP_005261466.1
XM_005261410.3 474 Intron XP_005261467.1
XM_005261411.1 474 Intron XP_005261468.1
XM_011530023.1 474 Intron XP_011528325.1
XM_017028674.1 474 Intron XP_016884163.1
XM_017028675.1 474 Intron XP_016884164.1
XM_017028676.1 474 Intron XP_016884165.1
XM_017028677.1 474 Missense Mutation CGC,GGC R140G XP_016884166.1
Gene
H1F0
Gene Name
H1 histone family member 0
There are no transcripts associated with this gene.

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