Product Details

SNP ID
rs142380998
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:8648192 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTAGGGGGCAGACCAGCCATCTGAC[A/G]GCAAAGCTCATCTAGAAGAGAAGCA
Phenotype
MIM: 601103
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MFAP5 PubMed Links

Gene Details

Gene
MFAP5
Gene Name
microfibrillar associated protein 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297709.1 655 Missense Mutation CGT,TGT R131C NP_001284638.1
NM_001297710.1 655 Missense Mutation CGT,TGT R119C NP_001284639.1
NM_001297711.1 655 Missense Mutation CGT,TGT R116C NP_001284640.1
NM_001297712.1 655 Missense Mutation CGT,TGT R77C NP_001284641.1
NM_003480.3 655 Missense Mutation CGT,TGT R141C NP_003471.1

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