Product Details

SNP ID

rs111967822

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:31954617 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCCGATCCCTGTCCCGTTCCCGG[C/T]CTCGATCTCGATCCCGATCCCGATC

Phenotype

MIM: 613927 MIM: 138470 MIM: 154040 MIM: 600478

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

C2 PubMed Links

Additional Information

For this assay, SNP(s) [rs377559803] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

C2

Gene Name

complement component 2

There are no transcripts associated with this gene.

Gene

CFB

Gene Name

complement factor B

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002904.5	884	Missense Mutation	GAC,GGC	D227G	NP_002895.3
XM_006715205.3	884	Missense Mutation	GAC,GGC	D222G	XP_006715268.1
XM_011514913.2	884	Missense Mutation	GAC,GGC	D172G	XP_011513215.1
XM_017011299.1	884	Missense Mutation	GAC,GGC	D167G	XP_016866788.1

Gene

SKIV2L

Gene Name

Ski2 like RNA helicase

There are no transcripts associated with this gene.

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