Product Details

SNP ID
rs139493671
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:43888608 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTATCGCCTGGTTATTTCAAGAAG[A/C]GTTTTCCCTCAATTTTCTTAGCTGC
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 4144 Missense Mutation GCT,TCT A1393S NP_573566.2
XM_006711915.2 4144 Missense Mutation GCT,TCT A1367S XP_006711978.1
XM_006711916.3 4144 Intron XP_006711979.1
XM_011532473.1 4144 Missense Mutation GCT,TCT A1368S XP_011530775.1
XM_017003117.1 4144 Missense Mutation GCT,TCT A1342S XP_016858606.1

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