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Search Thermo Fisher Scientific
GGGCGCCCCCTTCGCCTGTGACTTC[A/G]AGCAGGACCCCTGCGGCTGGCGGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605107 MIM: 610167 | ||||||||||||||||||||
Literature Links: |
C9orf172 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
C9orf172 - chromosome 9 open reading frame 172 | ||||||
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There are no transcripts associated with this gene. |
EDF1 - endothelial differentiation related factor 1 | ||||||
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There are no transcripts associated with this gene. |
MAMDC4 - MAM domain containing 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_206920.2 | 255 | Missense Mutation | AAG,GAG | K,E 69 | NP_996803.2 |
PHPT1 - phosphohistidine phosphatase 1 | ||||||
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There are no transcripts associated with this gene. |