Product Details

SNP ID
rs143587416
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:119146724 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGACCAGAGAGGTTCCAGACAGACC[G/T]ACCACAGAATGGCAGGCCAGTCTGA
Phenotype
MIM: 608351
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
C3orf30 PubMed Links

Gene Details

Gene
C3orf30
Gene Name
chromosome 3 open reading frame 30
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152539.2 575 Missense Mutation GAC,TAC D179Y NP_689752.2
Gene
IGSF11
Gene Name
immunoglobulin superfamily member 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001015887.1 575 Intron NP_001015887.1
NM_152538.2 575 Intron NP_689751.2
XM_006713517.1 575 Intron XP_006713580.1
XM_011512462.2 575 Intron XP_011510764.1
XM_011512463.1 575 Intron XP_011510765.1
XM_011512464.2 575 Intron XP_011510766.1
XM_011512465.1 575 Intron XP_011510767.1
XM_011512466.2 575 Intron XP_011510768.1
XM_011512467.2 575 Intron XP_011510769.1
XM_011512468.1 575 Intron XP_011510770.1
XM_011512469.1 575 Intron XP_011510771.1
XM_011512470.1 575 Intron XP_011510772.1
XM_011512471.2 575 Intron XP_011510773.1
XM_011512472.1 575 Intron XP_011510774.1
XM_011512474.2 575 Intron XP_011510776.1
XM_017005789.1 575 Intron XP_016861278.1
XM_017005790.1 575 Intron XP_016861279.1

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