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GACACGAACCGCTCGAAGTCCACAC[A/G]CAGACGGCTATCCCGGTAGCGGCTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604638 MIM: 608839 | ||||||||||||||||||||
Literature Links: |
ACTN4 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 |
ACTN4 - actinin alpha 4 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001322033.1 | 2269 | Intron | NP_001308962.1 | |||
NM_004924.5 | 2269 | Intron | NP_004915.2 | |||
XM_005259281.4 | 2269 | Intron | XP_005259338.1 | |||
XM_006723406.2 | 2269 | Intron | XP_006723469.1 | |||
XM_017027331.1 | 2269 | Intron | XP_016882820.1 |
CAPN12 - calpain 12 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_144691.4 | 2269 | Missense Mutation | CGT,TGT | R,C 674 | NP_653292.2 | |
XM_017026355.1 | 2269 | Missense Mutation | CGT,TGT | R,C 678 | XP_016881844.1 | |
XM_017026356.1 | 2269 | Missense Mutation | CGT,TGT | R,C 657 | XP_016881845.1 | |
XM_017026357.1 | 2269 | Missense Mutation | CGT,TGT | R,C 654 | XP_016881846.1 | |
XM_017026358.1 | 2269 | Missense Mutation | CGT,TGT | R,C 653 | XP_016881847.1 | |
XM_017026359.1 | 2269 | Intron | XP_016881848.1 | |||
XM_017026360.1 | 2269 | Missense Mutation | CGT,TGT | R,C 607 | XP_016881849.1 | |
XM_017026361.1 | 2269 | Intron | XP_016881850.1 | |||
XM_017026362.1 | 2269 | Intron | XP_016881851.1 | |||
XM_017026363.1 | 2269 | UTR 3 | XP_016881852.1 | |||
XM_017026364.1 | 2269 | Missense Mutation | CGT,TGT | R,C 483 | XP_016881853.1 | |
XM_017026365.1 | 2269 | Intron | XP_016881854.1 |