Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCTGCGCCCTGACCCTAGCCCAGAG[A/G]AACGGGCAATATGAGTAAGTAACCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300535 | ||||||||||||||||||||
Literature Links: |
OCRL 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 |
OCRL - OCRL, inositol polyphosphate-5-phosphatase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000276.3 | 270 | Silent Mutation | AGA,AGG | R,R 35 | NP_000267.2 | |
NM_001318784.1 | 270 | Silent Mutation | AGA,AGG | R,R 36 | NP_001305713.1 | |
NM_001587.3 | 270 | Silent Mutation | AGA,AGG | R,R 35 | NP_001578.2 | |
XM_005262422.2 | 270 | Intron | XP_005262479.1 | |||
XM_011531344.2 | 270 | Intron | XP_011529646.1 | |||
XM_011531345.2 | 270 | Intron | XP_011529647.1 | |||
XM_017029554.1 | 270 | Silent Mutation | AGA,AGG | R,R 35 | XP_016885043.1 |