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TCTGCTTTCTCTTTTAGCCGGATGC[A/G]CAGTGATGGTTTTGATGAAGAAAGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602690 MIM: 606659 | ||||||||||||||||||||
Literature Links: |
C11orf57 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 |
C11orf57 - chromosome 11 open reading frame 57 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001082969.1 | 343 | Missense Mutation | CAC,CGC | H,R 60 | NP_001076438.1 | |
NM_001082970.1 | 343 | Missense Mutation | CAC,CGC | H,R 60 | NP_001076439.1 | |
NM_001301017.1 | 343 | Missense Mutation | CAC,CGC | H,R 60 | NP_001287946.1 | |
NM_001301019.1 | 343 | Missense Mutation | CAC,CGC | H,R 31 | NP_001287948.1 | |
NM_001301021.1 | 343 | Missense Mutation | CAC,CGC | H,R 31 | NP_001287950.1 | |
NM_018195.3 | 343 | Missense Mutation | CAC,CGC | H,R 60 | NP_060665.3 |
PIH1D2 - PIH1 domain containing 2 | ||||||
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There are no transcripts associated with this gene. |
SDHD - succinate dehydrogenase complex subunit D | ||||||
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There are no transcripts associated with this gene. |
TIMM8B - translocase of inner mitochondrial membrane 8 homolog B | ||||||
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There are no transcripts associated with this gene. |