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TTAGGGGACCACGTATTGCTTGAGG[C/T]ATCATCACAGGTCCAAATGAACACA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600152 | ||||||||||||||||||||
Literature Links: |
SEC13 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
SEC13 - SEC13 homolog, nuclear pore and COPII coat complex component | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001136026.2 | 1056 | Missense Mutation | ACC,GCC | T,A 294 | 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 |