Product Details

SNP ID
rs146630100
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:43889806 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGCGTAACGCTTTAGAAACAGATC[A/T]TCCAATTTTGTATTCTTTGCAGTCA
Phenotype
MIM: 605460 MIM: 607544
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
ABCG8 PubMed Links

Gene Details

Gene
ABCG8
Gene Name
ATP binding cassette subfamily G member 8
There are no transcripts associated with this gene.

Gene
LRPPRC
Gene Name
leucine rich pentatricopeptide repeat containing
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_133259.3 4023 Missense Mutation GAA,GAT E1352D NP_573566.2
XM_006711915.2 4023 Missense Mutation GAA,GAT E1326D XP_006711978.1
XM_006711916.3 4023 Intron XP_006711979.1
XM_011532473.1 4023 Missense Mutation GAA,GAT E1327D XP_011530775.1
XM_017003117.1 4023 Missense Mutation GAA,GAT E1301D XP_016858606.1

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