Product Details

SNP ID

rs142254775

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:868157 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGATCTGGGGGTCCTGGGAGAGT[A/G]GTGTGTGGACTGCGGGCCCAGCTGG

Phenotype

MIM: 134350 MIM: 604062

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CFD PubMed Links

Gene Details

Gene

CFD

Gene Name

complement factor D

There are no transcripts associated with this gene.

Gene

MED16

Gene Name

mediator complex subunit 16

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005481.2	2729	Missense Mutation	CAC,TAC	H860Y	NP_005472.2
XM_017026120.1	2729	Missense Mutation	CAC,TAC	H791Y	XP_016881609.1
XM_017026121.1	2729	Missense Mutation	CAC,TAC	H685Y	XP_016881610.1

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