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TGGGCTTTGCCTCCTGCTGCTGCTG[C/T]TCTGCCAGTTCATGGAGGACCGCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 136470 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
FST 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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FST - follistatin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006350.3 | 504 | Missense Mutation | CTC,TTC | L,F 18 | NP_006341.1 | |
NM_013409.2 | 504 | Missense Mutation | CTC,TTC | L,F 18 | NP_037541.1 | |
XM_005248400.4 | 504 | Missense Mutation | CTC,TTC | L,F 18 | XP_005248457.1 | |
XM_005248401.4 | 504 | Missense Mutation | CTC,TTC | L,F 18 | XP_005248458.1 | |
XM_005248402.4 | 504 | Missense Mutation | CTC,TTC | L,F 18 | XP_005248459.1 | |
XM_005248403.4 | 504 | Missense Mutation | CTC,TTC | L,F 18 | XP_005248460.1 | |
XM_011543099.2 | 504 | Intron | XP_011541401.1 | |||
XM_017008954.1 | 504 | Missense Mutation | CTC,TTC | L,F 18 | XP_016864443.1 | |
XM_017008955.1 | 504 | Intron | XP_016864444.1 |