Product Details

SNP ID
rs200059839
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:43889754 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCACAGGGGGTTCAATGAAAGGGA[A/C]AGGCTCTCCAGCATACTTCAGCAAA
Phenotype
MIM: 605460 MIM: 607544
Polymorphism
A/C, 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 4075 Missense Mutation NP_573566.2
XM_006711915.2 4075 Missense Mutation XP_006711978.1
XM_006711916.3 4075 Intron XP_006711979.1
XM_011532473.1 4075 Missense Mutation XP_011530775.1
XM_017003117.1 4075 Missense Mutation XP_016858606.1

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