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TCTGGTCAAGAAAGCCAATGATCTC[A/G]TGAGTTATCTCAGCAGTGTGAGCCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 613899 | ||||||||||||||||||||
Literature Links: |
C9orf3 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 |
FANCC - Fanconi anemia complementation group C | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000136.2 | 1949 | Silent Mutation | CAC,CAT | H,H 520 | NP_000127.2 | |
NM_001243743.1 | 1949 | Silent Mutation | CAC,CAT | H,H 520 | NP_001230672.1 | |
NM_001243744.1 | 1949 | Intron | NP_001230673.1 | |||
XM_005251802.3 | 1949 | Silent Mutation | CAC,CAT | H,H 293 | XP_005251859.1 | |
XM_006717001.2 | 1949 | Silent Mutation | CAC,CAT | H,H 465 | XP_006717064.1 | |
XM_006717002.3 | 1949 | Intron | XP_006717065.1 | |||
XM_006717004.3 | 1949 | Intron | XP_006717067.1 | |||
XM_011518365.2 | 1949 | Silent Mutation | CAC,CAT | H,H 520 | XP_011516667.1 | |
XM_011518366.2 | 1949 | Intron | XP_011516668.1 | |||
XM_011518367.2 | 1949 | Silent Mutation | CAC,CAT | H,H 368 | XP_011516669.1 | |
XM_017014452.1 | 1949 | Silent Mutation | CAC,CAT | H,H 368 | XP_016869941.1 | |
XM_017014453.1 | 1949 | Silent Mutation | CAC,CAT | H,H 368 | XP_016869942.1 | |
XM_017014454.1 | 1949 | Silent Mutation | CAC,CAT | H,H 313 | XP_016869943.1 |