Product Details

SNP ID
rs147302249
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:43889784 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTCCAGCATACTTCAGCAAAGATG[C/T]GTAACGCTTTAGAAACAGATCATCC
Phenotype
MIM: 605460 MIM: 607544
Polymorphism
C/T, Transition 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 4045 Missense Mutation ACA,GCA T1360A NP_573566.2
XM_006711915.2 4045 Missense Mutation ACA,GCA T1334A XP_006711978.1
XM_006711916.3 4045 Intron XP_006711979.1
XM_011532473.1 4045 Missense Mutation ACA,GCA T1335A XP_011530775.1
XM_017003117.1 4045 Missense Mutation ACA,GCA T1309A XP_016858606.1

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