Product Details

SNP ID
rs144045651
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:21647168 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGTGTGGTCCCTCCTCCTGTCTGT[C/T]TAGCTCTCGCTTCCGGCACACTGGG
Phenotype
MIM: 606222 MIM: 609388
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
IGSF6 PubMed Links

Gene Details

Gene
IGSF6
Gene Name
immunoglobulin superfamily member 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005849.3 460 Missense Mutation AAA,AGA K131R NP_005840.2
Gene
METTL9
Gene Name
methyltransferase like 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001077180.2 460 Intron NP_001070648.1
NM_001288659.1 460 Intron NP_001275588.1
NM_001288660.1 460 Intron NP_001275589.1
NM_016025.4 460 Intron NP_057109.3
XM_017023269.1 460 Intron XP_016878758.1

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