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TGGTGCAGGTTCGGGAGCGGATCCG[C/G]ATCAATGGGCAGCCCATCAGTCCTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 131195 MIM: 136510 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ENG 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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ENG - endoglin | ||||||
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There are no transcripts associated with this gene. |
FPGS - folylpolyglutamate synthase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001018078.2 | 360 | Silent Mutation | CGC,CGG | R,R 91 | NP_001018088.1 | |
NM_001288803.1 | 360 | Silent Mutation | CGC,CGG | R,R 141 | NP_001275732.1 | |
NM_004957.5 | 360 | Silent Mutation | CGC,CGG | R,R 141 | NP_004948.4 | |
XM_005251864.3 | 360 | Silent Mutation | CGC,CGG | R,R 141 | XP_005251921.1 | |
XM_011518439.2 | 360 | UTR 5 | XP_011516741.1 | |||
XM_017014565.1 | 360 | Silent Mutation | CGC,CGG | R,R 91 | XP_016870054.1 | |
XM_017014566.1 | 360 | UTR 5 | XP_016870055.1 |
LOC102723566 - uncharacterized LOC102723566 | ||||||
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There are no transcripts associated with this gene. |