Product Details

SNP ID

rs116774215

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:43810474 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCCAAGGTGGGATAGCCTTTAAG[A/G]AGCCATTCCAATCTGTAGATGTGTG

Phenotype

MIM: 605459

Polymorphism

A/G, 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	1167	Intron			NP_071881.1
XM_005264480.3	1167	Intron			XP_005264537.1
XM_006712073.3	1167	Intron			XP_006712136.1
XM_006712074.3	1167	Intron			XP_006712137.1
XM_011533024.2	1167	Intron			XP_011531326.1
XM_011533025.2	1167	Intron			XP_011531327.1
XM_011533026.2	1167	Intron			XP_011531328.1
XM_011533027.2	1167	Intron			XP_011531329.1
XM_011533028.2	1167	Intron			XP_011531330.1

Gene

DYNC2LI1

Gene Name

dynein cytoplasmic 2 light intermediate chain 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001193464.1	1167	Intron			NP_001180393.1
NM_015522.3	1167	Intron			NP_056337.1
NM_016008.3	1167	Intron			NP_057092.2
XM_005264364.4	1167	Missense Mutation	AAG,GAG	K364E	XP_005264421.1
XM_005264365.4	1167	Missense Mutation	AAG,GAG	K363E	XP_005264422.1

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