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GGCTGCTAGACACGCTTGAGTGCTC[C/T]GAGGGCAGGTGAGGGGAGGGCATCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604975 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SOX5 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
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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SOX5 - SRY-box 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001261414.1 | 2226 | Silent Mutation | TCA,TCG | S,S 572 | NP_001248343.1 | |
NM_001261415.1 | 2226 | Silent Mutation | TCA,TCG | S,S 683 | NP_001248344.1 | |
NM_006940.4 | 2226 | Silent Mutation | TCA,TCG | S,S 693 | NP_008871.3 | |
NM_152989.3 | 2226 | Silent Mutation | TCA,TCG | S,S 680 | NP_694534.1 | |
NM_178010.2 | 2226 | Silent Mutation | TCA,TCG | S,S 307 | NP_821078.1 | |
XM_011520831.2 | 2226 | Silent Mutation | TCA,TCG | S,S 658 | XP_011519133.1 | |
XM_011520832.2 | 2226 | Silent Mutation | TCA,TCG | S,S 694 | XP_011519134.1 | |
XM_011520833.2 | 2226 | Silent Mutation | TCA,TCG | S,S 684 | XP_011519135.1 | |
XM_011520834.2 | 2226 | Silent Mutation | TCA,TCG | S,S 681 | XP_011519136.1 | |
XM_011520835.2 | 2226 | Silent Mutation | TCA,TCG | S,S 681 | XP_011519137.1 | |
XM_011520837.2 | 2226 | Silent Mutation | TCA,TCG | S,S 681 | XP_011519139.1 | |
XM_011520838.2 | 2226 | Silent Mutation | TCA,TCG | S,S 659 | XP_011519140.1 | |
XM_011520842.2 | 2226 | Silent Mutation | TCA,TCG | S,S 345 | XP_011519144.1 | |
XM_017019888.1 | 2226 | Silent Mutation | TCA,TCG | S,S 723 | XP_016875377.1 | |
XM_017019889.1 | 2226 | Silent Mutation | TCA,TCG | S,S 722 | XP_016875378.1 | |
XM_017019890.1 | 2226 | Silent Mutation | TCA,TCG | S,S 681 | XP_016875379.1 | |
XM_017019891.1 | 2226 | Silent Mutation | TCA,TCG | S,S 681 | XP_016875380.1 | |
XM_017019892.1 | 2226 | Silent Mutation | TCA,TCG | S,S 681 | XP_016875381.1 | |
XM_017019893.1 | 2226 | Silent Mutation | TCA,TCG | S,S 681 | XP_016875382.1 | |
XM_017019894.1 | 2226 | Silent Mutation | TCA,TCG | S,S 681 | XP_016875383.1 | |
XM_017019895.1 | 2226 | Silent Mutation | TCA,TCG | S,S 681 | XP_016875384.1 | |
XM_017019896.1 | 2226 | Silent Mutation | TCA,TCG | S,S 680 | XP_016875385.1 | |
XM_017019897.1 | 2226 | Silent Mutation | TCA,TCG | S,S 646 | XP_016875386.1 | |
XM_017019898.1 | 2226 | Silent Mutation | TCA,TCG | S,S 645 | XP_016875387.1 | |
XM_017019899.1 | 2226 | Silent Mutation | TCA,TCG | S,S 645 | XP_016875388.1 | |
XM_017019900.1 | 2226 | Silent Mutation | TCA,TCG | S,S 645 | XP_016875389.1 | |
XM_017019901.1 | 2226 | Silent Mutation | TCA,TCG | S,S 645 | XP_016875390.1 | |
XM_017019902.1 | 2226 | Intron | XP_016875391.1 | |||
XM_017019903.1 | 2226 | Intron | XP_016875392.1 |