Product Details

SNP ID

rs114959875

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:7061765 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATACCTTTGAAGGTGACACTGAGCC[C/T]CAGGTGACGCCGCACCACCAAAGAA

Phenotype

MIM: 120580

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C1S PubMed Links

Gene Details

Gene

C1S

Gene Name

complement component 1, s subcomponent

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001734.3	216	Intron			NP_001725.1
NM_201442.2	216	UTR 5			NP_958850.1
XM_005253760.1	216	UTR 5			XP_005253817.1

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