Product Details

SNP ID
rs141065877
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:131275558 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCAGGGTGGTAGCAGCAGCTGTAA[C/T]GCCCCATGCTAGTACCAGATATATT
Phenotype
MIM: 300137
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
IGSF1 PubMed Links

Gene Details

Gene
IGSF1
Gene Name
immunoglobulin superfamily member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001170961.1 3402 Missense Mutation CAT,CGT H1040R NP_001164432.1
NM_001170962.1 3402 Missense Mutation CAT,CGT H1026R NP_001164433.1
NM_001170963.1 3402 Intron NP_001164434.1
NM_001555.4 3402 Missense Mutation CAT,CGT H1035R NP_001546.2
NM_205833.3 3402 Intron NP_991402.1
XM_011531330.1 3402 Missense Mutation CAT,CGT H1040R XP_011529632.1
XM_011531333.1 3402 Missense Mutation CAT,CGT H1040R XP_011529635.1
XM_011531334.1 3402 Intron XP_011529636.1

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