Product Details

SNP ID
rs41281457
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:43809753 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTTCCAAGTCTTGGAAACAAATC[C/G]AGCTTGATTCTTGAACCTATTTCAA
Phenotype
MIM: 605459
Polymorphism
C/G, 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 1145 Intron NP_071881.1
XM_005264480.3 1145 Intron XP_005264537.1
XM_006712073.3 1145 Intron XP_006712136.1
XM_006712074.3 1145 Intron XP_006712137.1
XM_011533024.2 1145 Intron XP_011531326.1
XM_011533025.2 1145 Intron XP_011531327.1
XM_011533026.2 1145 Intron XP_011531328.1
XM_011533027.2 1145 Intron XP_011531329.1
XM_011533028.2 1145 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 1145 Missense Mutation CAG,GAG Q349E NP_001180393.1
NM_015522.3 1145 Intron NP_056337.1
NM_016008.3 1145 Missense Mutation CAG,GAG Q348E NP_057092.2
XM_005264364.4 1145 Intron XP_005264421.1
XM_005264365.4 1145 Intron XP_005264422.1

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