Product Details

SNP ID

rs104894667

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:860686 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGCACGCGCGGCCCTACATGGCGT[A/C]GGTGCAGCTGAACGGCGCGCACCTG

Phenotype

MIM: 134350 MIM: 130130 MIM: 604062

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CFD PubMed Links

Gene Details

Gene

CFD

Gene Name

complement factor D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317335.1	156	Nonsense Mutation	TAG,TCG	*49S	NP_001304264.1
NM_001928.3	156	Nonsense Mutation	TAG,TCG	*42S	NP_001919.2

Gene

ELANE

Gene Name

elastase, neutrophil expressed

There are no transcripts associated with this gene.

Gene

MED16

Gene Name

mediator complex subunit 16

There are no transcripts associated with this gene.

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