Product Details

SNP ID
rs11719996
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:49488525 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGACATTTAGATGTGCCACACACAA[C/T]AGGGGTGAATGAGAAGAAGGATCTA
Phenotype
MIM: 128239
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
DAG1 PubMed Links

Gene Details

Gene
DAG1
Gene Name
dystroglycan 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001165928.3 Intron NP_001159400.2
NM_001177634.2 Intron NP_001171105.1
NM_001177635.2 Intron NP_001171106.1
NM_001177636.2 Intron NP_001171107.1
NM_001177637.2 Intron NP_001171108.1
NM_001177638.2 Intron NP_001171109.1
NM_001177639.2 Intron NP_001171110.1
NM_001177640.2 Intron NP_001171111.1
NM_001177641.2 Intron NP_001171112.1
NM_001177642.2 Intron NP_001171113.1
NM_001177643.2 Intron NP_001171114.1
NM_001177644.2 Intron NP_001171115.1
NM_004393.5 Intron NP_004384.4

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