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GTGATCGCCTGTGGCCTCCCTGCAG[C/G]GCTGTGACTCCCTGACGCAGATCCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601031 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
RHPN1 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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RHPN1 - rhophilin Rho GTPase binding protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_052924.2 | 712 | Missense Mutation | CGC,GGC | R,G 21 | NP_443156.2 | |
XM_005250772.3 | 712 | Missense Mutation | CGC,GGC | R,G 74 | XP_005250829.1 | |
XM_005250773.3 | 712 | Missense Mutation | CGC,GGC | R,G 74 | XP_005250830.1 | |
XM_006716502.3 | 712 | Missense Mutation | CGC,GGC | R,G 74 | XP_006716565.1 | |
XM_011516817.2 | 712 | Missense Mutation | CGC,GGC | R,G 74 | XP_011515119.1 | |
XM_011516818.1 | 712 | Missense Mutation | CGC,GGC | R,G 57 | XP_011515120.1 | |
XM_011516819.2 | 712 | Missense Mutation | CGC,GGC | R,G 21 | XP_011515121.1 | |
XM_011516820.2 | 712 | Missense Mutation | CGC,GGC | R,G 9 | XP_011515122.1 | |
XM_011516821.2 | 712 | UTR 5 | XP_011515123.1 | |||
XM_011516822.2 | 712 | UTR 5 | XP_011515124.1 | |||
XM_011516823.2 | 712 | Missense Mutation | CGC,GGC | R,G 74 | XP_011515125.1 | |
XM_017013013.1 | 712 | Missense Mutation | CGC,GGC | R,G 74 | XP_016868502.1 | |
XM_017013014.1 | 712 | Missense Mutation | CGC,GGC | R,G 74 | XP_016868503.1 | |
XM_017013015.1 | 712 | UTR 5 | XP_016868504.1 | |||
XM_017013016.1 | 712 | Missense Mutation | CGC,GGC | R,G 74 | XP_016868505.1 |
RHPN1-AS1 - RHPN1 antisense RNA 1 (head to head) | ||||||
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There are no transcripts associated with this gene. |