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TCCCATCAGGTTTCTGGGAAAGCTG[C/T]ACCCAAGCCCCTGACTGCTCCATTA
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 |
---|---|---|
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 |
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 | 989 | Silent Mutation | GTA,GTG | V,V 205 | NP_002506.2 | |
NM_006489.2 | 989 | Silent Mutation | GTA,GTG | V,V 181 | NP_006480.2 | |
NM_006491.2 | 989 | Intron | NP_006482.1 | |||
XM_011536800.2 | 989 | Silent Mutation | GTA,GTG | V,V 59 | XP_011535102.1 | |
XM_017021342.1 | 989 | Silent Mutation | GTA,GTG | V,V 168 | XP_016876831.1 | |
XM_017021343.1 | 989 | Silent Mutation | GTA,GTG | V,V 144 | XP_016876832.1 | |
XM_017021344.1 | 989 | Silent Mutation | GTA,GTG | V,V 83 | XP_016876833.1 | |
XM_017021345.1 | 989 | Silent Mutation | GTA,GTG | V,V 83 | XP_016876834.1 | |
XM_017021346.1 | 989 | Silent Mutation | GTA,GTG | V,V 83 | XP_016876835.1 | |
XM_017021347.1 | 989 | Silent Mutation | GTA,GTG | V,V 83 | XP_016876836.1 | |
XM_017021348.1 | 989 | Silent Mutation | GTA,GTG | V,V 83 | XP_016876837.1 | |
XM_017021349.1 | 989 | Silent Mutation | GTA,GTG | V,V 59 | XP_016876838.1 |