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Search Thermo Fisher Scientific
TTTTCACTGTCACTCCCATAATCTA[C/T]ATCTGGATCATCCTCTTCCTCGTCG
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 |
---|---|---|
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 |
SOX5 - SRY-box 5 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001261414.1 | 2389 | Missense Mutation | ATA,GTA | I,V 627 | NP_001248343.1 | |
NM_001261415.1 | 2389 | Missense Mutation | ATA,GTA | I,V 738 | NP_001248344.1 | |
NM_006940.4 | 2389 | Missense Mutation | ATA,GTA | I,V 748 | NP_008871.3 | |
NM_152989.3 | 2389 | Missense Mutation | ATA,GTA | I,V 735 | NP_694534.1 | |
NM_178010.2 | 2389 | Missense Mutation | ATA,GTA | I,V 362 | NP_821078.1 | |
XM_011520831.2 | 2389 | Missense Mutation | ATA,GTA | I,V 713 | XP_011519133.1 | |
XM_011520832.2 | 2389 | Missense Mutation | ATA,GTA | I,V 749 | XP_011519134.1 | |
XM_011520833.2 | 2389 | Missense Mutation | ATA,GTA | I,V 739 | XP_011519135.1 | |
XM_011520834.2 | 2389 | Missense Mutation | ATA,GTA | I,V 736 | XP_011519136.1 | |
XM_011520835.2 | 2389 | Missense Mutation | ATA,GTA | I,V 736 | XP_011519137.1 | |
XM_011520837.2 | 2389 | Missense Mutation | ATA,GTA | I,V 736 | XP_011519139.1 | |
XM_011520838.2 | 2389 | Missense Mutation | ATA,GTA | I,V 714 | XP_011519140.1 | |
XM_011520842.2 | 2389 | Missense Mutation | ATA,GTA | I,V 400 | XP_011519144.1 | |
XM_017019888.1 | 2389 | Missense Mutation | ATA,GTA | I,V 778 | XP_016875377.1 | |
XM_017019889.1 | 2389 | Missense Mutation | ATA,GTA | I,V 777 | XP_016875378.1 | |
XM_017019890.1 | 2389 | Missense Mutation | ATA,GTA | I,V 736 | XP_016875379.1 | |
XM_017019891.1 | 2389 | Missense Mutation | ATA,GTA | I,V 736 | XP_016875380.1 | |
XM_017019892.1 | 2389 | Missense Mutation | ATA,GTA | I,V 736 | XP_016875381.1 | |
XM_017019893.1 | 2389 | Missense Mutation | ATA,GTA | I,V 736 | XP_016875382.1 | |
XM_017019894.1 | 2389 | Missense Mutation | ATA,GTA | I,V 736 | XP_016875383.1 | |
XM_017019895.1 | 2389 | Missense Mutation | ATA,GTA | I,V 736 | XP_016875384.1 | |
XM_017019896.1 | 2389 | Missense Mutation | ATA,GTA | I,V 735 | XP_016875385.1 | |
XM_017019897.1 | 2389 | Missense Mutation | ATA,GTA | I,V 701 | XP_016875386.1 | |
XM_017019898.1 | 2389 | Missense Mutation | ATA,GTA | I,V 700 | XP_016875387.1 | |
XM_017019899.1 | 2389 | Missense Mutation | ATA,GTA | I,V 700 | XP_016875388.1 | |
XM_017019900.1 | 2389 | Missense Mutation | ATA,GTA | I,V 700 | XP_016875389.1 | |
XM_017019901.1 | 2389 | Missense Mutation | ATA,GTA | I,V 700 | XP_016875390.1 | |
XM_017019902.1 | 2389 | Intron | XP_016875391.1 | |||
XM_017019903.1 | 2389 | Intron | XP_016875392.1 |