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CCTGCAGGCCTTACCTGGCTGGGGC[A/G]CGCTGTACAGATCTTCCTGCAGGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604126 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SVIL PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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SVIL - supervillin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001323599.1 | 6875 | Missense Mutation | GCG,GTG | A,V 1731 | NP_001310528.1 | |
NM_001323600.1 | 6875 | Missense Mutation | GCG,GTG | A,V 1647 | NP_001310529.1 | |
NM_003174.3 | 6875 | Missense Mutation | GCG,GTG | A,V 1615 | NP_003165.2 | |
NM_021738.2 | 6875 | Missense Mutation | GCG,GTG | A,V 2041 | NP_068506.2 | |
XM_005252570.2 | 6875 | Missense Mutation | GCG,GTG | A,V 2083 | XP_005252627.1 | |
XM_005252571.3 | 6875 | Missense Mutation | GCG,GTG | A,V 2083 | XP_005252628.1 | |
XM_005252573.2 | 6875 | Missense Mutation | GCG,GTG | A,V 2083 | XP_005252630.1 | |
XM_011519630.2 | 6875 | Missense Mutation | GCG,GTG | A,V 2142 | XP_011517932.2 | |
XM_011519631.2 | 6875 | Missense Mutation | GCG,GTG | A,V 2136 | XP_011517933.2 | |
XM_011519632.2 | 6875 | Missense Mutation | GCG,GTG | A,V 2111 | XP_011517934.2 | |
XM_011519633.2 | 6875 | Missense Mutation | GCG,GTG | A,V 2094 | XP_011517935.2 | |
XM_011519634.1 | 6875 | Missense Mutation | GCG,GTG | A,V 2083 | XP_011517936.1 | |
XM_011519635.1 | 6875 | Missense Mutation | GCG,GTG | A,V 2083 | XP_011517937.1 | |
XM_011519636.2 | 6875 | Missense Mutation | GCG,GTG | A,V 1858 | XP_011517938.2 | |
XM_011519637.2 | 6875 | Missense Mutation | GCG,GTG | A,V 1774 | XP_011517939.2 | |
XM_011519638.2 | 6875 | Missense Mutation | GCG,GTG | A,V 1742 | XP_011517940.2 | |
XM_017016575.1 | 6875 | Missense Mutation | GCG,GTG | A,V 2168 | XP_016872064.1 | |
XM_017016576.1 | 6875 | Missense Mutation | GCG,GTG | A,V 2141 | XP_016872065.1 | |
XM_017016577.1 | 6875 | Missense Mutation | GCG,GTG | A,V 2126 | XP_016872066.1 | |
XM_017016578.1 | 6875 | Missense Mutation | GCG,GTG | A,V 1826 | XP_016872067.1 | |
XM_017016579.1 | 6875 | Missense Mutation | GCG,GTG | A,V 1816 | XP_016872068.1 | |
XM_017016580.1 | 6875 | Missense Mutation | GCG,GTG | A,V 1801 | XP_016872069.1 | |
XM_017016581.1 | 6875 | Missense Mutation | GCG,GTG | A,V 1732 | XP_016872070.1 | |
XM_017016582.1 | 6875 | Missense Mutation | GCG,GTG | A,V 1700 | XP_016872071.1 | |
XM_017016583.1 | 6875 | Intron | XP_016872072.1 |
SVIL-AS1 - SVIL antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |