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TGCCCAGGCCAAGCCTGAAAAGAAG[C/G]CTGGGGAAGAGGTTATCGCTGGGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300921 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ARMCX5-GPRASP2 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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ARMCX5-GPRASP2 - ARMCX5-GPRASP2 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199818.1 | 1128 | Missense Mutation | CCT,GCT | P,A 18 | NP_001186747.1 |
BHLHB9 - basic helix-loop-helix domain containing, class B, 9 | ||||||
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There are no transcripts associated with this gene. |
GPRASP2 - G protein-coupled receptor associated sorting protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001004051.3 | 1128 | Missense Mutation | CCT,GCT | P,A 18 | NP_001004051.1 | |
NM_001184874.2 | 1128 | Missense Mutation | CCT,GCT | P,A 18 | NP_001171803.1 | |
NM_001184875.2 | 1128 | Missense Mutation | CCT,GCT | P,A 18 | NP_001171804.1 | |
NM_001184876.2 | 1128 | Missense Mutation | CCT,GCT | P,A 18 | NP_001171805.1 | |
NM_138437.5 | 1128 | Missense Mutation | CCT,GCT | P,A 18 | NP_612446.1 |