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GTAGTCTCTAAAAGAATAGTCTCTA[C/T]TTAAAGTTGAAAAGATACCCTCATG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606698 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SOX30 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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SOX30 - SRY-box 30 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308165.1 | 1106 | Missense Mutation | AAT,AGT | N,S 362 | NP_001295094.1 | |
NM_007017.2 | 1106 | UTR 3 | NP_008948.1 | |||
NM_178424.1 | 1106 | Missense Mutation | AAT,AGT | N,S 667 | NP_848511.1 | |
XM_005265803.4 | 1106 | Missense Mutation | AAT,AGT | N,S 362 | XP_005265860.1 | |
XM_011534420.1 | 1106 | Missense Mutation | AAT,AGT | N,S 362 | XP_011532722.1 |