Product Details

SNP ID
rs138740380
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:2833779 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTTCCCTCTTCATTCACTTCCAC[A/G]AATGACTTGTGGACAATTTTTGATA
Phenotype
MIM: 130135
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SERPINB1 PubMed Links

Gene Details

Gene
SERPINB1
Gene Name
serpin family B member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_030666.3 1349 Silent Mutation TTC,TTT F323F NP_109591.1
XM_011514333.1 1349 Silent Mutation TTC,TTT F323F XP_011512635.1
XM_011514334.2 1349 Silent Mutation TTC,TTT F323F XP_011512636.1
XM_011514335.2 1349 Silent Mutation TTC,TTT F274F XP_011512637.1

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