Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610082 | ||||||||||||||||||||
Literature Links: |
MYLIP 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 |
MYLIP - myosin regulatory light chain interacting protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_013262.3 | 280 | Missense Mutation | GTG,TTG | V,L 15 | NP_037394.2 | |
XM_005249032.2 | 280 | Missense Mutation | GTG,TTG | V,L 15 | XP_005249089.1 | |
XM_005249033.2 | 280 | UTR 5 | XP_005249090.1 | |||
XM_017010789.1 | 280 | Missense Mutation | GTG,TTG | V,L 15 | XP_016866278.1 |