Product Details

SNP ID
rs146242514
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:106033598 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGAAAGATCTATCAATTTGGATAA[C/T]AGGGTGTAGGAAAGTGTTTTCAGGC
Phenotype
MIM: 314200
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SERPINA7 PubMed Links

Gene Details

Gene
SERPINA7
Gene Name
serpin family A member 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000354.5 1197 Missense Mutation ATT,GTT I384V NP_000345.2
XM_005262180.3 1197 Intron XP_005262237.1
XM_006724683.2 1197 Missense Mutation ATT,GTT I394V XP_006724746.1

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