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AAATACCAAGCACAGCAAGCTTCAA[G/T]CCCACTGGGAAACCTTCTTCTCTCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
2 submissions
|
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Phenotype: |
MIM: 610480 | ||||||||||||||||||||
Literature Links: |
LEMD1 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 |
LEMD1 - LEM domain containing 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001001552.4 | 755 | Missense Mutation | GAT,GCT | D,A 108 | NP_001001552.3 | |
NM_001199050.1 | 755 | Silent Mutation | GGA,GGC | G,G 155 | NP_001185979.1 | |
NM_001199051.1 | 755 | Silent Mutation | GGA,GGC | G,G 114 | NP_001185980.1 | |
NM_001199052.1 | 755 | Missense Mutation | GAT,GCT | D,A 67 | NP_001185981.1 | |
XM_011510160.2 | 755 | Silent Mutation | GGA,GGC | G,G 183 | XP_011508462.1 | |
XM_011510161.2 | 755 | Silent Mutation | GGA,GGC | G,G 183 | XP_011508463.1 | |
XM_011510162.2 | 755 | Silent Mutation | GGA,GGC | G,G 177 | XP_011508464.1 | |
XM_011510163.2 | 755 | Silent Mutation | GGA,GGC | G,G 142 | XP_011508465.1 | |
XM_011510164.2 | 755 | UTR 3 | XP_011508466.1 | |||
XM_011510165.2 | 755 | UTR 3 | XP_011508467.1 |
LEMD1-AS1 - LEMD1 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |