Product Details

SNP ID
rs145032535
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:63589661 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATATTTTCTATCTCTTCCAGGTGTT[A/T]CACTCTGAAAAAGAGACGAAGAGCT
Phenotype
MIM: 604445
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
SERPINB13 PubMed Links

Gene Details

Gene
SERPINB13
Gene Name
serpin family B member 13
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001307923.1 339 Missense Mutation TTA,TTT L57F NP_001294852.1
NM_012397.3 339 Missense Mutation TTA,TTT L57F NP_036529.1
XM_005266707.3 339 UTR 5 XP_005266764.1
XM_011526029.2 339 Missense Mutation TTA,TTT L57F XP_011524331.1

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