Product Details

SNP ID
rs139297681
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:241229678 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGGGAAATTCCTCAGAGCTGCTCA[C/T]GTCAGGAGCCTGTGCAGAGAGAGGA
Phenotype
MIM: 605096 MIM: 142695
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
ANO7 PubMed Links

Gene Details

Gene
ANO7
Gene Name
anoctamin 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001001666.3 3958 Intron NP_001001666.1
NM_001001891.3 3958 Intron NP_001001891.2
XM_011511263.2 3958 Intron XP_011509565.1
XM_011511267.2 3958 Intron XP_011509569.1
XM_017004229.1 3958 Intron XP_016859718.1
XM_017004230.1 3958 Intron XP_016859719.1
Gene
HDLBP
Gene Name
high density lipoprotein binding protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001243900.2 3958 Missense Mutation ATG,GTG M1211V NP_001230829.1
NM_001320965.1 3958 Missense Mutation ATG,GTG M1244V NP_001307894.1
NM_001320966.1 3958 Missense Mutation ATG,GTG M1244V NP_001307895.1
NM_001320967.1 3958 Intron NP_001307896.1
NM_005336.5 3958 Missense Mutation ATG,GTG M1244V NP_005327.1
NM_203346.4 3958 Missense Mutation ATG,GTG M1244V NP_976221.1
XM_005247002.3 3958 Missense Mutation ATG,GTG M1244V XP_005247059.2
XM_005247003.4 3958 Missense Mutation ATG,GTG M1244V XP_005247060.2
XM_006712475.3 3958 Missense Mutation ATG,GTG M1244V XP_006712538.1
XM_011511058.2 3958 Missense Mutation ATG,GTG M1244V XP_011509360.1
XM_011511060.2 3958 Missense Mutation ATG,GTG M1244V XP_011509362.1
XM_017003940.1 3958 Missense Mutation ATG,GTG M1244V XP_016859429.1
XM_017003941.1 3958 Intron XP_016859430.1
XM_017003942.1 3958 Intron XP_016859431.1

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