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GAATGTTAAAGAACTTTGTCTCATA[A/C]CAGTGAATGATGGGCCATCAGTTGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610318 | ||||||||||||||||||||
Literature Links: |
COBLL1 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 |
COBLL1 - cordon-bleu WH2 repeat protein like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278458.1 | 3530 | Missense Mutation | GGT,GTT | G,V 1170 | NP_001265387.1 | |
NM_001278460.1 | 3530 | Missense Mutation | GGT,GTT | G,V 1111 | NP_001265389.1 | |
NM_001278461.1 | 3530 | Missense Mutation | GGT,GTT | G,V 1065 | NP_001265390.1 | |
NM_014900.4 | 3530 | Missense Mutation | GGT,GTT | G,V 1103 | NP_055715.3 |
SNORA70F - small nucleolar RNA, H/ACA box 70F | ||||||
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There are no transcripts associated with this gene. |