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GGCTTCTCACAAAGGTTGACCAGCA[C/T]GTACAAATGTCTCAACGCATACTCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602620 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LGMN 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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LGMN - legumain | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001008530.2 | 1377 | Missense Mutation | ATG,GTG | M,V 407 | NP_001008530.1 | |
NM_005606.6 | 1377 | Missense Mutation | ATG,GTG | M,V 407 | NP_005597.3 | |
XM_005267862.3 | 1377 | Missense Mutation | ATG,GTG | M,V 350 | XP_005267919.1 | |
XM_005267863.3 | 1377 | Intron | XP_005267920.1 | |||
XM_011536970.1 | 1377 | Intron | XP_011535272.1 | |||
XM_017021463.1 | 1377 | Intron | XP_016876952.1 | |||
XM_017021464.1 | 1377 | Missense Mutation | ATG,GTG | M,V 407 | XP_016876953.1 | |
XM_017021465.1 | 1377 | Intron | XP_016876954.1 | |||
XM_017021466.1 | 1377 | Intron | XP_016876955.1 | |||
XM_017021467.1 | 1377 | Intron | XP_016876956.1 |