Product Details

SNP ID
rs141105831
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:196958959 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGACAAACCAACAAAAGCTTTATT[C/T]AAGAACAGGTGACATAGTTGAATTT
Phenotype
MIM: 600889
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CFHR2 PubMed Links

Gene Details

Gene
CFHR2
Gene Name
complement factor H related 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001312672.1 624 Missense Mutation TCA,TTA S107L NP_001299601.1
NM_005666.3 624 Missense Mutation TCA,TTA S231L NP_005657.1
XM_005245113.3 624 Missense Mutation TCA,TTA S166L XP_005245170.1
XM_011509458.2 624 Missense Mutation TCA,TTA S227L XP_011507760.1
XM_011509459.2 624 Missense Mutation TCA,TTA S211L XP_011507761.1
XM_011509460.2 624 Missense Mutation TCA,TTA S162L XP_011507762.1
XM_017001109.1 624 Missense Mutation TCA,TTA S172L XP_016856598.1

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