Product Details

SNP ID
rs114038481
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:10304139 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTAGGGGACCACGTATTGCTTGAGG[C/T]ATCATCACAGGTCCAAATGAACACA
Phenotype
MIM: 600152
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SEC13 PubMed Links

Gene Details

Gene
SEC13
Gene Name
SEC13 homolog, nuclear pore and COPII coat complex component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001136026.2 1056 Missense Mutation ACC,GCC T294A NP_001129498.1
NM_001136232.2 1056 Intron NP_001129704.1
NM_001278946.1 1056 Intron NP_001265875.1
NM_030673.3 1056 Intron NP_109598.2
NM_183352.2 1056 Intron NP_899195.1
XM_005265379.2 1056 Intron XP_005265436.1
XM_017007019.1 1056 Intron XP_016862508.1
XM_017007020.1 1056 Intron XP_016862509.1
XM_017007021.1 1056 Intron XP_016862510.1

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