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GCACCTCCCTTCCCTATTATCAGAC[C/T]TGCTGTGCTGTTGGGAACTATAATC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602157 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NOVA1 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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NOVA1 - NOVA alternative splicing regulator 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002515.2 | 924 | Missense Mutation | AGT,GGT | S,G 184 | NP_002506.2 | |
NM_006489.2 | 924 | Missense Mutation | AGT,GGT | S,G 160 | NP_006480.2 | |
NM_006491.2 | 924 | Intron | NP_006482.1 | |||
XM_011536800.2 | 924 | Missense Mutation | AGT,GGT | S,G 38 | XP_011535102.1 | |
XM_017021342.1 | 924 | Missense Mutation | AGT,GGT | S,G 147 | XP_016876831.1 | |
XM_017021343.1 | 924 | Missense Mutation | AGT,GGT | S,G 123 | XP_016876832.1 | |
XM_017021344.1 | 924 | Missense Mutation | AGT,GGT | S,G 62 | XP_016876833.1 | |
XM_017021345.1 | 924 | Missense Mutation | AGT,GGT | S,G 62 | XP_016876834.1 | |
XM_017021346.1 | 924 | Missense Mutation | AGT,GGT | S,G 62 | XP_016876835.1 | |
XM_017021347.1 | 924 | Missense Mutation | AGT,GGT | S,G 62 | XP_016876836.1 | |
XM_017021348.1 | 924 | Missense Mutation | AGT,GGT | S,G 62 | XP_016876837.1 | |
XM_017021349.1 | 924 | Missense Mutation | AGT,GGT | S,G 38 | XP_016876838.1 |