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CCCTTATGCAAAGAGGACTGTCAGC[A/G]CTGGTGGGAGGATTGTCACACCTCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 136425 MIM: 600829 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
FOLR2 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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FOLR2 - folate receptor beta | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000803.4 | 561 | Missense Mutation | CAC,CGC | H,R 135 | NP_000794.3 | |
NM_001113534.1 | 561 | Missense Mutation | CAC,CGC | H,R 135 | NP_001107006.1 | |
NM_001113535.1 | 561 | Missense Mutation | CAC,CGC | H,R 135 | NP_001107007.1 | |
NM_001113536.1 | 561 | Missense Mutation | CAC,CGC | H,R 135 | NP_001107008.1 | |
XM_005273856.3 | 561 | Missense Mutation | CAC,CGC | H,R 144 | XP_005273913.1 |
INPPL1 - inositol polyphosphate phosphatase like 1 | ||||||
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There are no transcripts associated with this gene. |