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TGAGGGGGAAGTGGCATGGAGCCCA[C/T]AGCTCGGGAATAAAGTGAAACAGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300741 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
FAM120C 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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FAM120C - family with sequence similarity 120C | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001300788.1 | 2847 | Intron | NP_001287717.1 | |||
NM_017848.5 | 2847 | Missense Mutation | ATG,GTG | M,V 931 | NP_060318.4 | |
NM_198456.2 | 2847 | Intron | NP_940858.2 | |||
XM_006724589.3 | 2847 | Missense Mutation | ATG,GTG | M,V 931 | XP_006724652.1 |