Product Details

SNP ID
rs139745626
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:77378013 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGGTTCCAGAGGAATCACTTAGA[C/G]TGCAACATGAAGAGACAGGTCTAGA
Phenotype
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
SAMD15 PubMed Links

Gene Details

Gene
SAMD15
Gene Name
sterile alpha motif domain containing 15
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001010860.1 595 Missense Mutation CTG,GTG L199V NP_001010860.1
Gene
TMED8
Gene Name
transmembrane p24 trafficking protein family member 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_213601.1 595 Intron NP_998766.1
XM_017021223.1 595 Intron XP_016876712.1
XM_017021224.1 595 Intron XP_016876713.1
XM_017021225.1 595 Intron XP_016876714.1

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