Product Details

SNP ID
rs149693840
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:43888653 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCTGCTGTGCATAAAATTCAAAGC[C/T]TTCCTGTTAAGGAGAAAAAAAGAGG
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 4099 Missense Mutation AGC,GGC S1378G NP_573566.2
XM_006711915.2 4099 Missense Mutation AGC,GGC S1352G XP_006711978.1
XM_006711916.3 4099 Intron XP_006711979.1
XM_011532473.1 4099 Missense Mutation AGC,GGC S1353G XP_011530775.1
XM_017003117.1 4099 Missense Mutation AGC,GGC S1327G XP_016858606.1

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