Product Details

SNP ID
rs138003982
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:63639211 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTGCAGACCATCGATTTCATTTG[A/G]CAGCAGCACAATCATGCTTAGATCT
Phenotype
MIM: 600518
Polymorphism
A/G, 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_002974.3 889 Missense Mutation CCA,TCA P248S NP_002965.1
NM_175041.1 889 Missense Mutation CCA,TCA P227S NP_778206.1
XM_011526138.1 889 Missense Mutation CCA,TCA P248S XP_011524440.1

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