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GCTCAGGTGGTCGCTTCGGGTAAAG[C/T]GCTTGGAGCAGAGCAGGCAGGTGAA
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 |
---|---|---|
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 |
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 | 1408 | Missense Mutation | CAC,CGC | H,R 362 | NP_001166938.1 | |
NM_001300837.1 | 1408 | Missense Mutation | CAC,CGC | H,R 344 | NP_001287766.1 | |
NM_152860.1 | 1408 | Missense Mutation | CAC,CGC | H,R 362 | NP_690599.1 | |
XM_011537900.2 | 1408 | Missense Mutation | CAC,CGC | H,R 344 | XP_011536202.1 |