Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGGTACCTGTCTTCATAATAACTAA[A/G]GCATTCTGGCATTGAACTCGGAAAA
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 |
---|---|---|
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 |
SOX30 - SRY-box 30 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308165.1 | 1051 | Missense Mutation | CTT,TTT | L,F 344 | NP_001295094.1 | |
NM_007017.2 | 1051 | Silent Mutation | GCC,GCT | A,A 484 | NP_008948.1 | |
NM_178424.1 | 1051 | Missense Mutation | CTT,TTT | L,F 649 | NP_848511.1 | |
XM_005265803.4 | 1051 | Missense Mutation | CTT,TTT | L,F 344 | XP_005265860.1 | |
XM_011534420.1 | 1051 | Missense Mutation | CTT,TTT | L,F 344 | XP_011532722.1 |