Product Details

SNP ID
rs181909764
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:223980395 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATATGAGAAACATGGAGGTTTTCTG[A/C]CCCTGCTTCCAGAAAATAAAACAGT
Phenotype
MIM: 177010
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
SERPINE2 PubMed Links

Gene Details

Gene
SERPINE2
Gene Name
serpin family E member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001136528.1 1049 Missense Mutation GCA,TCA A330S NP_001130000.1
NM_001136530.1 1049 Missense Mutation GCA,TCA A342S NP_001130002.1
NM_006216.3 1049 Missense Mutation GCA,TCA A331S NP_006207.1
XM_005246641.2 1049 Missense Mutation GCA,TCA A343S XP_005246698.1
XM_017004329.1 1049 Missense Mutation GCA,TCA A331S XP_016859818.1
XM_017004330.1 1049 Missense Mutation GCA,TCA A331S XP_016859819.1
XM_017004331.1 1049 Missense Mutation GCA,TCA A330S XP_016859820.1
XM_017004332.1 1049 Missense Mutation GCA,TCA A330S XP_016859821.1

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