Search Thermo Fisher Scientific
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AATCTGAGAGAAAGTCACCTGAAGA[C/G]AATCTACAAGGTGCTGTAAAATCTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611613 | ||||||||||||||||||||
Literature Links: |
BIVM 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 |
BIVM - basic, immunoglobulin-like variable motif containing | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001159596.1 | 203 | Intron | NP_001153068.1 | |||
NM_017693.3 | 203 | Missense Mutation | GAC,GAG | D,E 27 | NP_060163.2 |
BIVM-ERCC5 - BIVM-ERCC5 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001204425.1 | 203 | Missense Mutation | GAC,GAG | D,E 27 | NP_001191354.1 |
KDELC1 - KDEL motif containing 1 | ||||||
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There are no transcripts associated with this gene. |