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CTTAAAGCGGCGCCACACGATGAAC[C/T]TCATGGTCTTGCATGGGTTGGTGAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604603 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MYOF PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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MYOF - myoferlin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_013451.3 | 6173 | Missense Mutation | AAG,AGG | K,R 2017 | NP_038479.1 | |
NM_133337.2 | 6173 | Missense Mutation | AAG,AGG | K,R 2004 | NP_579899.1 | |
XM_005269693.4 | 6173 | Missense Mutation | AAG,AGG | K,R 2036 | XP_005269750.1 | |
XM_005269694.4 | 6173 | Missense Mutation | AAG,AGG | K,R 2023 | XP_005269751.1 | |
XM_011539632.2 | 6173 | Missense Mutation | AAG,AGG | K,R 2018 | XP_011537934.1 | |
XM_017016068.1 | 6173 | Missense Mutation | AAG,AGG | K,R 1894 | XP_016871557.1 | |
XM_017016069.1 | 6173 | Missense Mutation | AAG,AGG | K,R 1894 | XP_016871558.1 | |
XM_017016070.1 | 6173 | Intron | XP_016871559.1 |