Product Details

SNP ID
rs145989561
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:30187191 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCTGCCGTGACAAGCGCGTGCGC[A/G]TCATCGAGCCCCGCAAAGGCACTGT
Phenotype
MIM: 605000 MIM: 615822
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
BOLA2B PubMed Links

Gene Details

Gene
BOLA2B
Gene Name
bolA family member 2B
There are no transcripts associated with this gene.

Gene
CORO1A
Gene Name
coronin 1A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001193333.2 1039 Missense Mutation ATC,GTC I202V NP_001180262.1
NM_007074.3 1039 Missense Mutation ATC,GTC I202V NP_009005.1
XM_011545714.2 1039 Missense Mutation ATC,GTC I202V XP_011544016.1
XM_017022885.1 1039 Missense Mutation ATC,GTC I202V XP_016878374.1
XM_017022886.1 1039 Missense Mutation ATC,GTC I202V XP_016878375.1
Gene
SLX1A
Gene Name
SLX1 homolog A, structure-specific endonuclease subunit
There are no transcripts associated with this gene.

Gene
SLX1A-SULT1A3
Gene Name
SLX1A-SULT1A3 readthrough (NMD candidate)
There are no transcripts associated with this gene.

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