Product Details

SNP ID
rs200930172
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:58528175 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATCCTTTCGGCAATATGGCTTCTT[T/G]TCCTTCTCATGAAAGCCTGGAGAGA
Phenotype
MIM: 605390
Polymorphism
T/G, Transversion substitution
Allele Nomenclature
Literature Links
LPXN PubMed Links

Gene Details

Gene
LPXN
Gene Name
leupaxin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001143995.2 904 Missense Mutation GAA,GAC E258D NP_001137467.1
NM_001307951.1 904 Missense Mutation GAA,GAC E233D NP_001294880.1
NM_004811.2 904 Missense Mutation GAA,GAC E253D NP_004802.1
XM_006718750.1 904 Missense Mutation GAA,GAC E157D XP_006718813.1
XM_011545388.2 904 Missense Mutation GAA,GAC E233D XP_011543690.1
XM_011545390.2 904 Missense Mutation GAA,GAC E233D XP_011543692.1
XM_011545391.2 904 Missense Mutation GAA,GAC E233D XP_011543693.1
XM_011545393.2 904 Intron XP_011543695.1
XM_011545394.2 904 Intron XP_011543696.1
XM_017018579.1 904 Intron XP_016874068.1

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