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CTGAAGAGGAGAATGCTGAAGGGGA[A/G]GTTAGCAGGGCAAACACTCCTGATT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612761 | ||||||||||||||||||||
Literature Links: |
LOC101929210 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 |
LOC101929210 - uncharacterized LOC101929210 | ||||||
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There are no transcripts associated with this gene. |
SMARCAD1 - SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001128429.2 | 243 | Silent Mutation | GAA,GAG | E,E 48 | NP_001121901.1 | |
NM_001128430.1 | 243 | Silent Mutation | GAA,GAG | E,E 48 | NP_001121902.1 | |
NM_001254949.1 | 243 | Intron | NP_001241878.1 | |||
NM_020159.4 | 243 | Silent Mutation | GAA,GAG | E,E 48 | NP_064544.2 | |
XM_017008463.1 | 243 | Silent Mutation | GAA,GAG | E,E 48 | XP_016863952.1 | |
XM_017008464.1 | 243 | UTR 5 | XP_016863953.1 | |||
XM_017008465.1 | 243 | UTR 5 | XP_016863954.1 |