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TTTGAAGGGCTGTAAGGAGCTGTGG[C/T]GTCGTCAGCCTCCATACAGGTGAGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 617003 MIM: 615798 MIM: 615403 MIM: 605914 | ||||||||||||||||||||
Literature Links: |
BICDL2 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
BICDL2 - BICD family like cargo adaptor 2 | ||||||
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There are no transcripts associated with this gene. |
CLDN6 - claudin 6 | ||||||
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There are no transcripts associated with this gene. |
HCFC1R1 - host cell factor C1 regulator 1 | ||||||
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There are no transcripts associated with this gene. |
LOC100128770 - uncharacterized LOC100128770 | ||||||
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There are no transcripts associated with this gene. |
THOC6 - THO complex 6 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142350.1 | 639 | Missense Mutation | CGT,TGT | R,C 115 | NP_001135822.1 | |
NM_024339.3 | 639 | Missense Mutation | CGT,TGT | R,C 115 | NP_077315.2 |
TNFRSF12A - TNF receptor superfamily member 12A | ||||||
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There are no transcripts associated with this gene. |