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CTGGGAGGCGAGTGCCACTTACCCA[C/T]TTTGAAGTTGGTGGTCTCCAGTGTA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605298 | ||||||||||||||||||||
Literature Links: |
DSCR3 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 |
DSCR3 - DSCR3 arrestin fold containing | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_006052.1 | 1557 | Missense Mutation | ATG,GTG | M,V 270 | NP_006043.1 | |
XM_005260909.4 | 1557 | Missense Mutation | ATG,GTG | M,V 243 | XP_005260966.1 | |
XM_005260911.4 | 1557 | Missense Mutation | ATG,GTG | M,V 145 | XP_005260968.1 | |
XM_011529423.2 | 1557 | Missense Mutation | ATG,GTG | M,V 222 | XP_011527725.1 |
DSCR9 - Down syndrome critical region 9 (non-protein coding) | ||||||
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There are no transcripts associated with this gene. |