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GAGTTTTCATAGCTTTTCTTTTGCC[G/A]GAACCCAGATGTAAGAACCAGATTG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 601014 | |||||||||||||||||||||||
Literature Links: |
DLG1 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
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 |
DLG1 - discs large MAGUK scaffold protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001098424.1 | 2839 | Missense Mutation | CCG,CTG | P,L 899 | NP_001091894.1 | |
NM_001204386.1 | 2839 | Missense Mutation | CCG,CTG | P,L 887 | NP_001191315.1 | |
NM_001204387.1 | 2839 | Missense Mutation | CCG,CTG | P,L 795 | NP_001191316.1 | |
NM_001204388.1 | 2839 | Missense Mutation | CCG,CTG | P,L 783 | NP_001191317.1 | |
NM_001290983.1 | 2839 | Missense Mutation | CCG,CTG | P,L 899 | NP_001277912.1 | |
NM_004087.2 | 2839 | Missense Mutation | CCG,CTG | P,L 921 | NP_004078.2 | |
XM_005269289.3 | 2839 | Missense Mutation | CCG,CTG | P,L 921 | XP_005269346.1 | |
XM_011512502.2 | 2839 | Missense Mutation | CCG,CTG | P,L 899 | XP_011510804.1 | |
XM_011512503.1 | 2839 | Missense Mutation | CCG,CTG | P,L 887 | XP_011510805.1 | |
XM_011512505.1 | 2839 | Missense Mutation | CCG,CTG | P,L 866 | XP_011510807.1 | |
XM_011512506.1 | 2839 | Missense Mutation | CCG,CTG | P,L 848 | XP_011510808.1 | |
XM_011512509.1 | 2839 | Intron | XP_011510811.1 | |||
XM_017005800.1 | 2839 | Missense Mutation | CCG,CTG | P,L 921 | XP_016861289.1 | |
XM_017005801.1 | 2839 | Missense Mutation | CCG,CTG | P,L 921 | XP_016861290.1 | |
XM_017005802.1 | 2839 | Missense Mutation | CCG,CTG | P,L 921 | XP_016861291.1 | |
XM_017005803.1 | 2839 | Missense Mutation | CCG,CTG | P,L 921 | XP_016861292.1 | |
XM_017005804.1 | 2839 | Missense Mutation | CCG,CTG | P,L 920 | XP_016861293.1 | |
XM_017005805.1 | 2839 | Missense Mutation | CCG,CTG | P,L 899 | XP_016861294.1 | |
XM_017005806.1 | 2839 | Missense Mutation | CCG,CTG | P,L 888 | XP_016861295.1 | |
XM_017005807.1 | 2839 | Missense Mutation | CCG,CTG | P,L 888 | XP_016861296.1 | |
XM_017005808.1 | 2839 | Missense Mutation | CCG,CTG | P,L 888 | XP_016861297.1 | |
XM_017005809.1 | 2839 | Missense Mutation | CCG,CTG | P,L 888 | XP_016861298.1 | |
XM_017005810.1 | 2839 | Missense Mutation | CCG,CTG | P,L 887 | XP_016861299.1 | |
XM_017005811.1 | 2839 | Missense Mutation | CCG,CTG | P,L 870 | XP_016861300.1 | |
XM_017005812.1 | 2839 | Missense Mutation | CCG,CTG | P,L 870 | XP_016861301.1 | |
XM_017005813.1 | 2839 | Missense Mutation | CCG,CTG | P,L 870 | XP_016861302.1 | |
XM_017005814.1 | 2839 | Missense Mutation | CCG,CTG | P,L 870 | XP_016861303.1 | |
XM_017005815.1 | 2839 | Missense Mutation | CCG,CTG | P,L 869 | XP_016861304.1 | |
XM_017005816.1 | 2839 | Missense Mutation | CCG,CTG | P,L 866 | XP_016861305.1 | |
XM_017005817.1 | 2839 | Missense Mutation | CCG,CTG | P,L 866 | XP_016861306.1 | |
XM_017005818.1 | 2839 | Missense Mutation | CCG,CTG | P,L 866 | XP_016861307.1 | |
XM_017005819.1 | 2839 | Missense Mutation | CCG,CTG | P,L 866 | XP_016861308.1 | |
XM_017005820.1 | 2839 | Missense Mutation | CCG,CTG | P,L 848 | XP_016861309.1 | |
XM_017005821.1 | 2839 | Missense Mutation | CCG,CTG | P,L 838 | XP_016861310.1 | |
XM_017005822.1 | 2839 | Missense Mutation | CCG,CTG | P,L 816 | XP_016861311.1 | |
XM_017005823.1 | 2839 | Missense Mutation | CCG,CTG | P,L 805 | XP_016861312.1 | |
XM_017005824.1 | 2839 | Missense Mutation | CCG,CTG | P,L 514 | XP_016861313.1 |