Product Details

SNP ID
rs200185579
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:42548623 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGTCAGGGGTGGCTGGCTCACGAG[G/T]TTTGGTCCAACCAGCAGAACCAGCT
Phenotype
MIM: 604028
Polymorphism
G/T, 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_001201572.1 894 Missense Mutation AAC,ACC N249T NP_001188501.1
NM_001201584.1 894 Missense Mutation AAC,ACC N227T NP_001188513.1
NM_004206.3 894 Missense Mutation AAC,ACC N249T NP_004197.1
NM_032970.3 894 UTR 3 NP_116752.1
XM_005265533.1 894 UTR 3 XP_005265590.1
XM_005265534.1 894 UTR 3 XP_005265591.1
XM_005265535.1 894 UTR 3 XP_005265592.1
XM_011534212.1 894 UTR 3 XP_011532514.1
XM_017007438.1 894 Missense Mutation AAC,ACC N179T XP_016862927.1
XM_017007439.1 894 Missense Mutation AAC,ACC N179T XP_016862928.1

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