Product Details

SNP ID
rs147448993
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:55867205 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGGTCCTGATAATGACTTCACGAG[A/C]ACAAGCATTGCACTTACAGGACTTG
Phenotype
MIM: 601548
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
EFEMP1 PubMed Links

Gene Details

Gene
EFEMP1
Gene Name
EGF containing fibulin like extracellular matrix protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001039348.2 1810 Silent Mutation NP_001034437.1
NM_001039349.2 1810 Silent Mutation NP_001034438.1
XM_005264205.4 1810 Silent Mutation XP_005264262.1
XM_017003586.1 1810 Silent Mutation XP_016859075.1

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