Product Details

SNP ID
rs201573384
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:112138672 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTGGCAAGATGGTGCCCAGCTCTC[C/T]GCGCGCGCTCTTCCTTCTGCTCCTG
Phenotype
MIM: 611551
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FBLN7 PubMed Links

Gene Details

Gene
FBLN7
Gene Name
fibulin 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001128165.1 288 Missense Mutation CCG,CTG P6L NP_001121637.1
NM_153214.2 288 Missense Mutation CCG,CTG P6L NP_694946.2
XM_006712260.3 288 Missense Mutation CCG,CTG P6L XP_006712323.1
XM_011510585.2 288 Missense Mutation CCG,CTG P6L XP_011508887.1
XM_011510587.2 288 UTR 5 XP_011508889.1
XM_017003317.1 288 Missense Mutation CCG,CTG P6L XP_016858806.1
XM_017003318.1 288 Missense Mutation CCG,CTG P6L XP_016858807.1
XM_017003319.1 288 Missense Mutation CCG,CTG P6L XP_016858808.1

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