Product Details

SNP ID

rs12134975

Assay Type

Functionally tested

NCBI dbSNP Submissions

15

Location

Chr.1:196656867 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTATCTTGTTTTATCTCTAATTAT[A/G]ACATACTTGTTATTCTATCCAACTT

Phenotype

MIM: 134370

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CFH PubMed Links

Gene Details

Gene

CFH

Gene Name

complement factor H

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000186.3		Intron			NP_000177.2
NM_001014975.2		Intron			NP_001014975.1
XM_017001108.1		Intron			XP_016856597.1

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