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GGAGCGCAGCAGTTTGATGAAGGAC[C/T]GTGGGAACATCTCCTTGGATTCCTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611746 | ||||||||||||||||||||
Literature Links: |
LOC105373051 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 |
LOC105373051 - uncharacterized LOC105373051 | ||||||
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There are no transcripts associated with this gene. |
SCUBE1 - signal peptide, CUB domain and EGF like domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_173050.3 | 3036 | Missense Mutation | CAG,CGG | Q,R 970 | NP_766638.2 | |
XM_005261752.1 | 3036 | Missense Mutation | CAG,CGG | Q,R 1000 | XP_005261809.1 | |
XM_011530389.2 | 3036 | Missense Mutation | CAG,CGG | Q,R 894 | XP_011528691.1 | |
XM_011530390.2 | 3036 | Missense Mutation | CAG,CGG | Q,R 894 | XP_011528692.1 |