Product Details

SNP ID
rs189997608
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:92704348 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAGTGACCAAGGCACACGTGGTCCA[C/T]GGACAATTTTATCCTGCGAGAGACA
Phenotype
MIM: 602620
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LGMN PubMed Links

Gene Details

Gene
LGMN
Gene Name
legumain
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001008530.2 1431 Missense Mutation ATG,GTG M425V NP_001008530.1
NM_005606.6 1431 Missense Mutation ATG,GTG M425V NP_005597.3
XM_005267862.3 1431 Missense Mutation ATG,GTG M368V XP_005267919.1
XM_005267863.3 1431 Missense Mutation CAT,CGT H345R XP_005267920.1
XM_011536970.1 1431 Missense Mutation CAT,CGT H402R XP_011535272.1
XM_017021463.1 1431 Intron XP_016876952.1
XM_017021464.1 1431 Missense Mutation ATG,GTG M425V XP_016876953.1
XM_017021465.1 1431 Intron XP_016876954.1
XM_017021466.1 1431 Intron XP_016876955.1
XM_017021467.1 1431 Intron XP_016876956.1

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