Product Details

SNP ID

rs8057

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:43886447 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTAGCTATTAGATATTTAGAACA[C/T]TCATAAGCCCACCTACAGTATAGTT

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	6396	UTR 3			NP_573566.2
XM_006711915.2	6396	Intron			XP_006711978.1
XM_006711916.3	6396	Intron			XP_006711979.1
XM_011532473.1	6396	Intron			XP_011530775.1
XM_017003117.1	6396	Intron			XP_016858606.1

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