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- SNP ID:
- rs144919021
- Gene
-
ACTN4CAPN12 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.19: 38731175 - 38731175 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
GAAGTCCACACGCAGACGGCTATCC[C/T]GGTAGCGGCTGGTGAGGGTCTGGGT
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 604638
MIM: 608839
|
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Literature Links: |
ACTN4 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
| ACTN4 - actinin alpha 4 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001322033.1 | 2255 | Intron | NP_001308962.1 | |||
| NM_004924.5 | 2255 | Intron | NP_004915.2 | |||
| XM_005259281.4 | 2255 | Intron | XP_005259338.1 | |||
| XM_006723406.2 | 2255 | Intron | XP_006723469.1 | |||
| XM_017027331.1 | 2255 | Intron | XP_016882820.1 | |||
| CAPN12 - calpain 12 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_144691.4 | 2255 | Missense Mutation | CAG,CGG | Q,R 669 | NP_653292.2 | |
| XM_017026355.1 | 2255 | Missense Mutation | CAG,CGG | Q,R 673 | XP_016881844.1 | |
| XM_017026356.1 | 2255 | Missense Mutation | CAG,CGG | Q,R 652 | XP_016881845.1 | |
| XM_017026357.1 | 2255 | Missense Mutation | CAG,CGG | Q,R 649 | XP_016881846.1 | |
| XM_017026358.1 | 2255 | Missense Mutation | CAG,CGG | Q,R 648 | XP_016881847.1 | |
| XM_017026359.1 | 2255 | Intron | XP_016881848.1 | |||
| XM_017026360.1 | 2255 | Missense Mutation | CAG,CGG | Q,R 602 | XP_016881849.1 | |
| XM_017026361.1 | 2255 | Intron | XP_016881850.1 | |||
| XM_017026362.1 | 2255 | Intron | XP_016881851.1 | |||
| XM_017026363.1 | 2255 | UTR 3 | XP_016881852.1 | |||
| XM_017026364.1 | 2255 | Missense Mutation | CAG,CGG | Q,R 478 | XP_016881853.1 | |
| XM_017026365.1 | 2255 | Intron | XP_016881854.1 | |||
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