Product Details

SNP ID
rs117713497
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.7:94587115 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTTCAGAAAAATAATTTTATAAAT[G/T]AGGTTAAACAACCTTAAAATCCCCT
Phenotype
MIM: 611686 MIM: 604149
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
CASD1 PubMed Links

Gene Details

Gene
CASD1
Gene Name
CAS1 domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022900.4 2189 Intron NP_075051.4
XM_006716092.3 2189 Intron XP_006716155.1
XM_006716093.3 2189 Intron XP_006716156.2
XM_011516495.2 2189 Intron XP_011514797.1
XM_017012546.1 2189 Intron XP_016868035.1
XM_017012547.1 2189 Intron XP_016868036.1
Gene
SGCE
Gene Name
sarcoglycan epsilon
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001099400.1 2189 Intron NP_001092870.1
NM_001099401.1 2189 Intron NP_001092871.1
NM_001301139.1 2189 Intron NP_001288068.1
NM_003919.2 2189 Intron NP_003910.1
XM_005250675.4 2189 Intron XP_005250732.1
XM_005250677.4 2189 Intron XP_005250734.1
XM_011516663.2 2189 UTR 3 XP_011514965.1
XM_011516664.2 2189 UTR 3 XP_011514966.1
XM_011516665.2 2189 UTR 3 XP_011514967.1
XM_011516666.2 2189 UTR 3 XP_011514968.1
XM_011516667.2 2189 UTR 3 XP_011514969.1
XM_011516669.2 2189 UTR 3 XP_011514971.1
XM_017012763.1 2189 UTR 3 XP_016868252.1
XM_017012764.1 2189 Intron XP_016868253.1
XM_017012765.1 2189 Intron XP_016868254.1
XM_017012766.1 2189 Intron XP_016868255.1
XM_017012767.1 2189 UTR 3 XP_016868256.1
XM_017012768.1 2189 Intron XP_016868257.1
XM_017012769.1 2189 Intron XP_016868258.1
XM_017012770.1 2189 Intron XP_016868259.1

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