Product Details

SNP ID

rs201992386

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:43838573 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGGCATGGAGGATGCCCAGGCTG[G/T]GAGGCTCCGGGGCGGTGGCAGGAGC

Phenotype

MIM: 605459 MIM: 605460

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ABCG5 PubMed Links

Gene Details

Gene

ABCG5

Gene Name

ATP binding cassette subfamily G member 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022436.2	268	Missense Mutation	CAC,CCC	H36P	NP_071881.1
XM_005264480.3	268	Missense Mutation	CAC,CCC	H36P	XP_005264537.1
XM_006712073.3	268	Missense Mutation	CAC,CCC	H36P	XP_006712136.1
XM_006712074.3	268	Missense Mutation	CAC,CCC	H36P	XP_006712137.1
XM_011533024.2	268	Missense Mutation	CAC,CCC	H36P	XP_011531326.1
XM_011533025.2	268	UTR 5			XP_011531327.1
XM_011533026.2	268	Missense Mutation	CAC,CCC	H36P	XP_011531328.1
XM_011533027.2	268	UTR 5			XP_011531329.1
XM_011533028.2	268	Intron			XP_011531330.1

Gene

ABCG8

Gene Name

ATP binding cassette subfamily G member 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022437.2	268	Intron			NP_071882.1
XM_005264483.3	268	Intron			XP_005264540.1
XM_011533029.2	268	Intron			XP_011531331.1
XM_011533030.2	268	Intron			XP_011531332.1

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