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GGACACCTGGTCTACAGGTGCCAGA[C/T]GGTCAGTGTTAGGTGGAAAATCTAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603009 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
DYSF PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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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
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AMR
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DYSF - dysferlin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130455.1 | Intron | NP_001123927.1 | ||||
NM_001130976.1 | Intron | NP_001124448.1 | ||||
NM_001130977.1 | Intron | NP_001124449.1 | ||||
NM_001130978.1 | Intron | NP_001124450.1 | ||||
NM_001130979.1 | Intron | NP_001124451.1 | ||||
NM_001130980.1 | Intron | NP_001124452.1 | ||||
NM_001130981.1 | Intron | NP_001124453.1 | ||||
NM_001130982.1 | Intron | NP_001124454.1 | ||||
NM_001130983.1 | Intron | NP_001124455.1 | ||||
NM_001130984.1 | Intron | NP_001124456.1 | ||||
NM_001130985.1 | Intron | NP_001124457.1 | ||||
NM_001130986.1 | Intron | NP_001124458.1 | ||||
NM_001130987.1 | Intron | NP_001124459.1 | ||||
NM_003494.3 | Intron | NP_003485.1 | ||||
XM_005264584.4 | Intron | XP_005264641.1 | ||||
XM_005264585.4 | Intron | XP_005264642.1 |