Product Details

SNP ID
rs147282416
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:42548638 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTCACGAGGTTTGGTCCAACCAG[A/C]AGAACCAGCTCCTTGGATCCTGGAA
Phenotype
MIM: 604028
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
SEC22C PubMed Links

Gene Details

Gene
SEC22C
Gene Name
SEC22 homolog C, vesicle trafficking protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001201572.1 879 Missense Mutation TGC,TTC C244F NP_001188501.1
NM_001201584.1 879 Missense Mutation TGC,TTC C222F NP_001188513.1
NM_004206.3 879 Missense Mutation TGC,TTC C244F NP_004197.1
NM_032970.3 879 UTR 3 NP_116752.1
XM_005265533.1 879 UTR 3 XP_005265590.1
XM_005265534.1 879 UTR 3 XP_005265591.1
XM_005265535.1 879 UTR 3 XP_005265592.1
XM_011534212.1 879 UTR 3 XP_011532514.1
XM_017007438.1 879 Missense Mutation TGC,TTC C174F XP_016862927.1
XM_017007439.1 879 Missense Mutation TGC,TTC C174F XP_016862928.1

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