Product Details
- SNP ID
-
rs3764644
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:1041853 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CAGGCCACTTCCCAAACAAGCCACT[G/T]CCATCGGCGGGCACCGTGCCCTGGC
- Phenotype
-
MIM: 605414
MIM: 602373
- Polymorphism
- G/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
ABCA7
PubMed Links
Gene Details
- Gene
- ABCA7
- Gene Name
- ATP binding cassette subfamily A member 7
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_019112.3 |
401 |
Silent Mutation |
CTG,CTT |
L61L |
NP_061985.2 |
| XM_006722616.1 |
401 |
Silent Mutation |
CTG,CTT |
L61L |
XP_006722679.1 |
| XM_006722617.2 |
401 |
Silent Mutation |
CTG,CTT |
L61L |
XP_006722680.1 |
| XM_006722618.2 |
401 |
Intron |
|
|
XP_006722681.1 |
| XM_011527628.2 |
401 |
Silent Mutation |
CTG,CTT |
L61L |
XP_011525930.1 |
| XM_011527629.1 |
401 |
Silent Mutation |
CTG,CTT |
L61L |
XP_011525931.1 |
| XM_011527630.1 |
401 |
Silent Mutation |
CTG,CTT |
L61L |
XP_011525932.1 |
| XM_011527631.1 |
401 |
Silent Mutation |
CTG,CTT |
L61L |
XP_011525933.1 |
| XM_011527632.1 |
401 |
Intron |
|
|
XP_011525934.1 |
| XM_011527633.2 |
401 |
Silent Mutation |
CTG,CTT |
L61L |
XP_011525935.1 |
| XM_011527634.1 |
401 |
Silent Mutation |
CTG,CTT |
L61L |
XP_011525936.1 |
| XM_011527635.1 |
401 |
Silent Mutation |
CTG,CTT |
L61L |
XP_011525937.1 |
| XM_011527636.2 |
401 |
Intron |
|
|
XP_011525938.1 |
| XM_017026142.1 |
401 |
Silent Mutation |
CTG,CTT |
L61L |
XP_016881631.1 |
| XM_017026143.1 |
401 |
Silent Mutation |
CTG,CTT |
L61L |
XP_016881632.1 |
- Gene
- CNN2
- Gene Name
- calponin 2
There are no transcripts associated with this gene.
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