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TGCAGATCATCTAATTTTGAAGCAC[C/T]GTCATCTAGCGGAGTTTCACTTGCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606845 | ||||||||||||||||||||
Literature Links: |
DCBLD1 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 |
DCBLD1 - discoidin, CUB and LCCL domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_173674.2 | 1590 | Intron | NP_775945.1 | |||
XM_005266941.1 | 1590 | Intron | XP_005266998.1 | |||
XM_006715463.1 | 1590 | Intron | XP_006715526.1 | |||
XM_011535771.1 | 1590 | Intron | XP_011534073.1 | |||
XM_011535773.2 | 1590 | Intron | XP_011534075.1 | |||
XM_011535774.2 | 1590 | Intron | XP_011534076.1 | |||
XM_017010775.1 | 1590 | Intron | XP_016866264.1 |
GOPC - golgi associated PDZ and coiled-coil motif containing | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001017408.2 | 1590 | Missense Mutation | AGT,GGT | S,G 438 | NP_001017408.1 | |
NM_020399.3 | 1590 | Missense Mutation | AGT,GGT | S,G 446 | NP_065132.1 |