Product Details

SNP ID
rs112369210
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:41736888 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCAAAGCCTACTCTGTTGTTGCC[C/T]AAGTCGTAGACGGAATAGTAGGACC
Phenotype
MIM: 169740 MIM: 600744
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PGC PubMed Links

Gene Details

Gene
PGC
Gene Name
progastricsin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001166424.1 1198 Intron NP_001159896.1
NM_002630.3 1198 Silent Mutation TTA,TTG L377L NP_002621.1
Gene
TFEB
Gene Name
transcription factor EB
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001167827.2 1198 Intron NP_001161299.2
NM_001271943.1 1198 Intron NP_001258872.1
NM_001271944.1 1198 Intron NP_001258873.1
NM_001271945.1 1198 Intron NP_001258874.1
NM_007162.2 1198 Intron NP_009093.1
XM_005249411.1 1198 Intron XP_005249468.1
XM_005249412.1 1198 Intron XP_005249469.1
XM_006715212.3 1198 Intron XP_006715275.1
XM_006715213.2 1198 Intron XP_006715276.1
XM_011514915.1 1198 Intron XP_011513217.1
XM_011514916.2 1198 Intron XP_011513218.1

View Full Product Details