Product Details

SNP ID
rs267607369
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:5949055 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGGGGGAGCATTTGCACTCCATG[T/G]CATTGAGAACCTCATGGTACACAAC
Phenotype
MIM: 610109 MIM: 613160
Polymorphism
T/G, Transversion substitution
Allele Nomenclature
Literature Links
ANO2 PubMed Links

Gene Details

Gene
ANO2
Gene Name
anoctamin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278596.1 8657 Intron NP_001265525.1
NM_001278597.1 8657 Intron NP_001265526.1
XM_006718988.3 8657 Intron XP_006719051.1
XM_011520975.2 8657 Intron XP_011519277.1
XM_011520978.2 8657 Intron XP_011519280.1
XM_017019672.1 8657 Intron XP_016875161.1
Gene
VWF
Gene Name
von Willebrand factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000552.4 8657 Missense Mutation NP_000543.2

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