Product Details

SNP ID
rs117942573
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:10334593 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCGCCGTCCACCTCGAGAGTGGCA[C/T]TGCAGAAGAAGCTGCGTCCGTCGTC
Phenotype
MIM: 146631 MIM: 609950
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ICAM3 PubMed Links

Gene Details

Gene
ICAM3
Gene Name
intercellular adhesion molecule 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320605.1 1664 Missense Mutation AAT,AGT N280S NP_001307534.1
NM_001320606.1 1664 Missense Mutation AAT,AGT N299S NP_001307535.1
NM_001320608.1 1664 Missense Mutation AAT,AGT N115S NP_001307537.1
NM_002162.4 1664 Missense Mutation AAT,AGT N376S NP_002153.2
Gene
RAVER1
Gene Name
ribonucleoprotein, PTB binding 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_133452.2 1664 Intron NP_597709.2
XM_011527671.1 1664 Intron XP_011525973.1

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