Product Details

SNP ID
rs145549289
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:42548620 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTGGGTCAGGGGTGGCTGGCTCAC[A/G]AGGTTTGGTCCAACCAGCAGAACCA
Phenotype
MIM: 604028
Polymorphism
A/G, Transition 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_001201572.1 897 Missense Mutation TCG,TTG S250L NP_001188501.1
NM_001201584.1 897 Missense Mutation TCG,TTG S228L NP_001188513.1
NM_004206.3 897 Missense Mutation TCG,TTG S250L NP_004197.1
NM_032970.3 897 UTR 3 NP_116752.1
XM_005265533.1 897 UTR 3 XP_005265590.1
XM_005265534.1 897 UTR 3 XP_005265591.1
XM_005265535.1 897 UTR 3 XP_005265592.1
XM_011534212.1 897 UTR 3 XP_011532514.1
XM_017007438.1 897 Missense Mutation TCG,TTG S180L XP_016862927.1
XM_017007439.1 897 Missense Mutation TCG,TTG S180L XP_016862928.1

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