Product Details

SNP ID
rs146408171
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:75664739 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATGAAGGATTCTGCTTGATTCAAA[C/G]CTTTTATTTTCACCAAAATAAGAAT
Phenotype
MIM: 189901 MIM: 611832
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
GCFC2 PubMed Links

Gene Details

Gene
GCFC2
Gene Name
GC-rich sequence DNA-binding factor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001201334.1 2179 Missense Mutation GCT,GGT A589G NP_001188263.1
NM_001201335.1 2179 Intron NP_001188264.1
NM_003203.4 2179 Missense Mutation GCT,GGT A758G NP_003194.3
XM_005264520.3 2179 Missense Mutation GCT,GGT A766G XP_005264577.1
XM_011533074.2 2179 Missense Mutation GCT,GGT A683G XP_011531376.1
XM_011533075.1 2179 Intron XP_011531377.1
XM_017004787.1 2179 Intron XP_016860276.1
XM_017004788.1 2179 Intron XP_016860277.1
Gene
MRPL19
Gene Name
mitochondrial ribosomal protein L19
There are no transcripts associated with this gene.

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