Product Details

SNP ID
rs200470552
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:112233335 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACTTACACATTTCCTTTTTCTTTT[C/T]TATCTCTGCATCATGATCAAATTTA
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_001128165.1 717 Intron NP_001121637.1
NM_153214.2 717 Intron NP_694946.2
XM_006712260.3 717 Intron XP_006712323.1
XM_011510585.2 717 Intron XP_011508887.1
XM_011510587.2 717 Intron XP_011508889.1
XM_017003317.1 717 Intron XP_016858806.1
XM_017003318.1 717 Intron XP_016858807.1
XM_017003319.1 717 Intron XP_016858808.1
Gene
ZC3H8
Gene Name
zinc finger CCCH-type containing 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032494.2 717 Missense Mutation AAA,GAA K220E NP_115883.2
XM_011511998.1 717 Missense Mutation AAA,GAA K118E XP_011510300.1
XM_017005107.1 717 Missense Mutation AAA,GAA K118E XP_016860596.1

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