Product Details
- SNP ID
-
rs12281
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:241229617 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TTTTGATCATTATCGTTTGGGGCCC[A/C]AAGGGAGGGTCTTGGGAGCCACCTG
- Phenotype
-
MIM: 605096
MIM: 142695
- Polymorphism
- A/C, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
ANO7
PubMed Links
Gene Details
- Gene
- ANO7
- Gene Name
- anoctamin 7
- 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 |
4019 |
Missense Mutation |
TGG,TTG |
W1231L |
NP_001230829.1 |
NM_001320965.1 |
4019 |
Missense Mutation |
TGG,TTG |
W1264L |
NP_001307894.1 |
NM_001320966.1 |
4019 |
Missense Mutation |
TGG,TTG |
W1264L |
NP_001307895.1 |
NM_001320967.1 |
4019 |
Intron |
|
|
NP_001307896.1 |
NM_005336.5 |
4019 |
Missense Mutation |
TGG,TTG |
W1264L |
NP_005327.1 |
NM_203346.4 |
4019 |
Missense Mutation |
TGG,TTG |
W1264L |
NP_976221.1 |
XM_005247002.3 |
4019 |
Missense Mutation |
TGG,TTG |
W1264L |
XP_005247059.2 |
XM_005247003.4 |
4019 |
Missense Mutation |
TGG,TTG |
W1264L |
XP_005247060.2 |
XM_006712475.3 |
4019 |
Missense Mutation |
TGG,TTG |
W1264L |
XP_006712538.1 |
XM_011511058.2 |
4019 |
Missense Mutation |
TGG,TTG |
W1264L |
XP_011509360.1 |
XM_011511060.2 |
4019 |
Missense Mutation |
TGG,TTG |
W1264L |
XP_011509362.1 |
XM_017003940.1 |
4019 |
Missense Mutation |
TGG,TTG |
W1264L |
XP_016859429.1 |
XM_017003941.1 |
4019 |
Intron |
|
|
XP_016859430.1 |
XM_017003942.1 |
4019 |
Intron |
|
|
XP_016859431.1 |
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