Product Details

SNP ID
rs143301743
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:1068614 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAGCCACCGGAGCCCACTGACAGC[C/T]GCCAGCCCGGGCGAGCTGCCCACCG
Phenotype
MIM: 605414 MIM: 601155
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ABCA7 PubMed Links

Gene Details

Gene
ABCA7
Gene Name
ATP binding cassette subfamily A member 7
There are no transcripts associated with this gene.

Gene
ARHGAP45
Gene Name
Rho GTPase activating protein 45
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001258328.2 378 Silent Mutation GCC,GCT A113A NP_001245257.1
NM_001282334.1 378 Intron NP_001269263.1
NM_001282335.1 378 Intron NP_001269264.1
NM_001321232.1 378 Silent Mutation GCC,GCT A101A NP_001308161.1
NM_012292.4 378 Silent Mutation GCC,GCT A97A NP_036424.2
XM_006722713.1 378 Silent Mutation GCC,GCT A97A XP_006722776.1
XM_011527858.1 378 Silent Mutation GCC,GCT A101A XP_011526160.1
XM_011527860.2 378 Intron XP_011526162.1

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