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GGGGCTGAAATTGCCAAGAATCTCA[G/T]CTTGGCAGGAGTGAAAGGACTGACC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613294 | ||||||||||||||||||||
Literature Links: |
SAE1 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 |
SAE1 - SUMO1 activating enzyme subunit 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145713.1 | 275 | Missense Mutation | AGC,ATC | S,I 56 | NP_001139185.1 | |
NM_001145714.1 | 275 | Missense Mutation | AGC,ATC | S,I 56 | NP_001139186.1 | |
NM_005500.2 | 275 | Missense Mutation | AGC,ATC | S,I 56 | NP_005491.1 | |
XM_006722963.2 | 275 | Intron | XP_006723026.1 | |||
XM_006722965.3 | 275 | Missense Mutation | AGC,ATC | S,I 92 | XP_006723028.1 | |
XM_017026135.1 | 275 | Missense Mutation | AGC,ATC | S,I 92 | XP_016881624.1 | |
XM_017026136.1 | 275 | Intron | XP_016881625.1 |