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SNP ID

rs142125966

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:43837864 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCCTAGGATGCACATGATCTGCC[C/T]GCTCTCCACGTACAAGGAGACATCT

Phenotype

MIM: 605459 MIM: 605460

Polymorphism

C/T, Transition 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	396	Missense Mutation	AGG,GGG	R79G	NP_071881.1
XM_005264480.3	396	Missense Mutation	AGG,GGG	R79G	XP_005264537.1
XM_006712073.3	396	Missense Mutation	AGG,GGG	R79G	XP_006712136.1
XM_006712074.3	396	Missense Mutation	AGG,GGG	R79G	XP_006712137.1
XM_011533024.2	396	Missense Mutation	AGG,GGG	R79G	XP_011531326.1
XM_011533025.2	396	UTR 5			XP_011531327.1
XM_011533026.2	396	Missense Mutation	AGG,GGG	R79G	XP_011531328.1
XM_011533027.2	396	UTR 5			XP_011531329.1
XM_011533028.2	396	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	396	Intron			NP_071882.1
XM_005264483.3	396	Intron			XP_005264540.1
XM_011533029.2	396	Intron			XP_011531331.1
XM_011533030.2	396	Intron			XP_011531332.1

Gene

DYNC2LI1

Gene Name

dynein cytoplasmic 2 light intermediate chain 1

There are no transcripts associated with this gene.

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