Product Details

SNP ID

rs146717555

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:31960237 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTCCAGAAAATGGCAGAGGAAGA[C/T]GGATCCCTGGTCTCTTTTGGCTGTC

Phenotype

MIM: 138470 MIM: 605996 MIM: 154040 MIM: 600478

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CFB PubMed Links

Gene Details

Gene

CFB

Gene Name

complement factor B

There are no transcripts associated with this gene.

Gene

DXO

Gene Name

decapping exoribonuclease

There are no transcripts associated with this gene.

Gene

MIR1236

Gene Name

microRNA 1236

There are no transcripts associated with this gene.

Gene

NELFE

Gene Name

negative elongation factor complex member E

There are no transcripts associated with this gene.

Gene

SKIV2L

Gene Name

Ski2 like RNA helicase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006929.4	643	Missense Mutation	ACG,ATG	T85M	NP_008860.4
XM_011514815.2	643	Missense Mutation	ACG,ATG	T85M	XP_011513117.1

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