Product Details

SNP ID
rs185876249
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:20623338 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGCAAGAAAATTATCAGAGAAATG[C/G]GTAAGCTCTCACTAAGTTCTGTAAG
Phenotype
MIM: 611785
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ABCB5 PubMed Links

Gene Details

Gene
ABCB5
Gene Name
ATP binding cassette subfamily B member 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001163941.1 290 Missense Mutation GCA,GGA A18G NP_001157413.1
NM_001163942.1 290 Intron NP_001157414.1
NM_001163993.2 290 Intron NP_001157465.1
NM_178559.5 290 Intron NP_848654.3
XM_011515367.2 290 Intron XP_011513669.1

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