Product Details

SNP ID
rs140805883
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:63639199 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAGTTCTTACCTTCTGCAGACCAT[C/T]GATTTCATTTGGCAGCAGCACAATC
Phenotype
MIM: 600518
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SERPINB4 PubMed Links

Gene Details

Gene
SERPINB4
Gene Name
serpin family B member 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002974.3 901 Missense Mutation AAT,GAT N252D NP_002965.1
NM_175041.1 901 Missense Mutation AAT,GAT N231D NP_778206.1
XM_011526138.1 901 Missense Mutation AAT,GAT N252D XP_011524440.1

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