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AGGTCTATCTTCAGGTTCCGAAGAG[A/G]TTTAAAGGGCTTTTTTCCCTTCTGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614260 | ||||||||||||||||||||
Literature Links: |
C9orf72 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 |
C9orf72 - chromosome 9 open reading frame 72 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001256054.2 | 1392 | Missense Mutation | CCT,TCT | P,S 429 | NP_001242983.1 | |
NM_018325.4 | 1392 | Missense Mutation | CCT,TCT | P,S 429 | NP_060795.1 | |
NM_145005.6 | 1392 | Intron | NP_659442.2 |