Product Details

SNP ID
rs200010771
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:166922596 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCTGCCCCTCACAGCCATCACCTG[C/T]GCCTGAAGCTCTCTCGATCCTCTTT
Phenotype
MIM: 611368
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ILDR2 PubMed Links

Gene Details

Gene
ILDR2
Gene Name
immunoglobulin like domain containing receptor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_199351.2 1055 Missense Mutation CAC,CGC H403R NP_955383.1
XM_006711314.3 1055 Missense Mutation CAC,CGC H95R XP_006711377.1
XM_017001252.1 1055 Missense Mutation CAC,CGC H418R XP_016856741.1
XM_017001253.1 1055 Missense Mutation CAC,CGC H410R XP_016856742.1
XM_017001254.1 1055 Missense Mutation CAC,CGC H399R XP_016856743.1
XM_017001255.1 1055 Missense Mutation CAC,CGC H359R XP_016856744.1
XM_017001256.1 1055 Missense Mutation CAC,CGC H291R XP_016856745.1
XM_017001257.1 1055 Missense Mutation CAC,CGC H418R XP_016856746.1
XM_017001258.1 1055 Intron XP_016856747.1
Gene
MAEL
Gene Name
maelstrom spermatogenic transposon silencer
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286377.1 1055 Intron NP_001273306.1
NM_001286378.1 1055 Intron NP_001273307.1
NM_032858.2 1055 Intron NP_116247.1
XM_006711583.1 1055 Intron XP_006711646.1
XM_011510067.1 1055 Intron XP_011508369.1
XM_011510068.1 1055 Intron XP_011508370.1
XM_017002602.1 1055 Intron XP_016858091.1
XM_017002603.1 1055 Intron XP_016858092.1

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