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GCCTTACCGGGCCTTTCTCAGGACT[C/T]CCTGGACTTTGAATCCTCAGGGAGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607359 MIM: 609722 | ||||||||||||||||||||
Literature Links: |
C8orf58 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 |
C8orf58 - chromosome 8 open reading frame 58 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001013842.2 | 389 | Missense Mutation | TCC,TTC | S,F 90 | NP_001013864.1 | |
NM_001198827.1 | 389 | Missense Mutation | TCC,TTC | S,F 90 | NP_001185756.1 | |
NM_173686.2 | 389 | Missense Mutation | TCC,TTC | S,F 90 | NP_775957.2 |
CCAR2 - cell cycle and apoptosis regulator 2 | ||||||
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There are no transcripts associated with this gene. |
LOC107986876 - proline-rich proteoglycan 2-like | ||||||
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There are no transcripts associated with this gene. |
PDLIM2 - PDZ and LIM domain 2 | ||||||
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There are no transcripts associated with this gene. |