Product Details

SNP ID
rs201796977
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:2833703 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGATGGTCGGCAGTGAAATTTTCTT[C/T]GGGCATCAACATGCAGAAAGTTGCG
Phenotype
MIM: 130135
Polymorphism
C/T, 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 1425 Missense Mutation AAA,GAA K349E NP_109591.1
XM_011514333.1 1425 Missense Mutation AAA,GAA K349E XP_011512635.1
XM_011514334.2 1425 Missense Mutation AAA,GAA K349E XP_011512636.1
XM_011514335.2 1425 Missense Mutation AAA,GAA K300E XP_011512637.1

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