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- SNP ID:
- rs142291535
- Gene
-
ABCA7CNN2 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.19: 1045056 - 1045056 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
ACCCTCAGAGGCAGCCCTGGTGTCG[C/T]GGGCCCTGCAACTGCTCGCGGAACA
Genomic Map
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Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 605414
MIM: 602373
|
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Literature Links: |
ABCA7 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
| ABCA7 - ATP binding cassette subfamily A member 7 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_019112.3 | 1488 | Missense Mutation | CGG,TGG | R,W 424 | NP_061985.2 | |
| XM_006722616.1 | 1488 | Missense Mutation | CGG,TGG | R,W 424 | XP_006722679.1 | |
| XM_006722617.2 | 1488 | Missense Mutation | CGG,TGG | R,W 424 | XP_006722680.1 | |
| XM_006722618.2 | 1488 | Intron | XP_006722681.1 | |||
| XM_011527628.2 | 1488 | Missense Mutation | CGG,TGG | R,W 424 | XP_011525930.1 | |
| XM_011527629.1 | 1488 | Missense Mutation | CGG,TGG | R,W 424 | XP_011525931.1 | |
| XM_011527630.1 | 1488 | Missense Mutation | CGG,TGG | R,W 424 | XP_011525932.1 | |
| XM_011527631.1 | 1488 | Missense Mutation | CGG,TGG | R,W 424 | XP_011525933.1 | |
| XM_011527632.1 | 1488 | Missense Mutation | CGG,TGG | R,W 272 | XP_011525934.1 | |
| XM_011527633.2 | 1488 | Missense Mutation | CGG,TGG | R,W 424 | XP_011525935.1 | |
| XM_011527634.1 | 1488 | Missense Mutation | CGG,TGG | R,W 424 | XP_011525936.1 | |
| XM_011527635.1 | 1488 | Missense Mutation | CGG,TGG | R,W 424 | XP_011525937.1 | |
| XM_011527636.2 | 1488 | Intron | XP_011525938.1 | |||
| XM_017026142.1 | 1488 | Missense Mutation | CGG,TGG | R,W 424 | XP_016881631.1 | |
| XM_017026143.1 | 1488 | Missense Mutation | CGG,TGG | R,W 424 | XP_016881632.1 | |
| CNN2 - calponin 2 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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