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AATATTCTCAAACTTCCTGTTCAGA[C/T]GCTGCTTCAAGGTTAAACATGATGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603583 MIM: 615533 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DLG2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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DLG2 - discs large MAGUK scaffold protein 2 | ||||||
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There are no transcripts associated with this gene. |
TMEM126B - transmembrane protein 126B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001193537.2 | 490 | Missense Mutation | CGC,TGC | R,C 75 | NP_001180466.1 | |
NM_001193538.2 | 490 | Missense Mutation | CGC,TGC | R,C 65 | NP_001180467.1 | |
NM_001256546.1 | 490 | Missense Mutation | CGC,TGC | R,C 65 | NP_001243475.1 | |
NM_001256547.1 | 490 | Missense Mutation | CGC,TGC | R,C 49 | NP_001243476.1 | |
NM_018480.4 | 490 | Missense Mutation | CGC,TGC | R,C 95 | NP_060950.3 | |
XM_011545165.2 | 490 | Missense Mutation | CGC,TGC | R,C 65 | XP_011543467.1 |