Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TAATAATCTGATCATGTTGCCCATC[A/C]TTCAGAAAGTCGCATGCGCTTGACT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600662 | ||||||||||||||||||||
Literature Links: |
MEF2C 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 |
MEF2C - myocyte enhancer factor 2C | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001131005.2 | 1523 | Nonsense Mutation | GGA,TGA | G,* 460 | NP_001124477.1 | |
NM_001193347.1 | 1523 | Nonsense Mutation | GGA,TGA | G,* 480 | NP_001180276.1 | |
NM_001193348.1 | 1523 | Nonsense Mutation | GGA,TGA | G,* 414 | NP_001180277.1 | |
NM_001193349.1 | 1523 | Nonsense Mutation | GGA,TGA | G,* 390 | NP_001180278.1 | |
NM_001193350.1 | 1523 | Nonsense Mutation | GGA,TGA | G,* 470 | NP_001180279.1 | |
NM_001308002.1 | 1523 | Nonsense Mutation | GGA,TGA | G,* 462 | NP_001294931.1 | |
NM_002397.4 | 1523 | Nonsense Mutation | GGA,TGA | G,* 470 | NP_002388.2 | |
XM_005248511.2 | 1523 | Nonsense Mutation | GGA,TGA | G,* 470 | XP_005248568.1 | |
XM_006714619.2 | 1523 | Nonsense Mutation | GGA,TGA | G,* 470 | XP_006714682.1 | |
XM_006714625.3 | 1523 | Nonsense Mutation | GGA,TGA | G,* 480 | XP_006714688.1 | |
XM_011543396.2 | 1523 | Nonsense Mutation | GGA,TGA | G,* 470 | XP_011541698.1 | |
XM_011543397.2 | 1523 | Nonsense Mutation | GGA,TGA | G,* 468 | XP_011541699.1 | |
XM_011543400.1 | 1523 | Nonsense Mutation | GGA,TGA | G,* 438 | XP_011541702.1 | |
XM_011543401.1 | 1523 | Nonsense Mutation | GGA,TGA | G,* 430 | XP_011541703.1 | |
XM_017009475.1 | 1523 | Nonsense Mutation | GGA,TGA | G,* 468 | XP_016864964.1 | |
XM_017009476.1 | 1523 | Nonsense Mutation | GGA,TGA | G,* 462 | XP_016864965.1 | |
XM_017009477.1 | 1523 | Nonsense Mutation | GGA,TGA | G,* 462 | XP_016864966.1 | |
XM_017009478.1 | 1523 | Nonsense Mutation | GGA,TGA | G,* 460 | XP_016864967.1 | |
XM_017009479.1 | 1523 | Nonsense Mutation | GGA,TGA | G,* 438 | XP_016864968.1 | |
XM_017009480.1 | 1523 | Nonsense Mutation | GGA,TGA | G,* 438 | XP_016864969.1 | |
XM_017009481.1 | 1523 | Nonsense Mutation | GGA,TGA | G,* 438 | XP_016864970.1 | |
XM_017009482.1 | 1523 | Nonsense Mutation | GGA,TGA | G,* 430 | XP_016864971.1 | |
XM_017009483.1 | 1523 | Nonsense Mutation | GGA,TGA | G,* 428 | XP_016864972.1 |