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CCAGTGCTTGCACCCCGTGGGGGTT[G/T]GGCTCCACCACTCCCTTCTAGCTGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605378 MIM: 606633 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AAAS 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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AAAS - aladin WD repeat nucleoporin | ||||||
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There are no transcripts associated with this gene. |
SP7 - Sp7 transcription factor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001173467.2 | 1062 | Missense Mutation | AAA,CAA | K,Q 247 | NP_001166938.1 | |
NM_001300837.1 | 1062 | Missense Mutation | AAA,CAA | K,Q 229 | NP_001287766.1 | |
NM_152860.1 | 1062 | Missense Mutation | AAA,CAA | K,Q 247 | NP_690599.1 | |
XM_011537900.2 | 1062 | Missense Mutation | AAA,CAA | K,Q 229 | XP_011536202.1 |