Product Details

SNP ID
rs150797523
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:80104636 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCACCGGCTCCTGGCCGTCTGCG[C/T]CCTCGTGTCCTTGGCAACCGCTGCA
Phenotype
MIM: 613799 MIM: 606800
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CCDC40 PubMed Links

Gene Details

Gene
CCDC40
Gene Name
coiled-coil domain containing 40
There are no transcripts associated with this gene.

Gene
GAA
Gene Name
glucosidase alpha, acid
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000152.4 288 Missense Mutation GCC,GTC A17V NP_000143.2
NM_001079803.2 288 Missense Mutation GCC,GTC A17V NP_001073271.1
NM_001079804.2 288 Missense Mutation GCC,GTC A17V NP_001073272.1
XM_005257193.2 288 Missense Mutation GCC,GTC A17V XP_005257250.1
XM_005257194.4 288 Missense Mutation GCC,GTC A17V XP_005257251.1
Gene
MIR1268B
Gene Name
microRNA 1268b
There are no transcripts associated with this gene.

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