Product Details

SNP ID

rs185367862

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:31947121 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTGCTATGACGGTTACACTCTCC[A/G]GGGCTCTGCCAATCGCACCTGCCAA

Phenotype

MIM: 613927 MIM: 138470 MIM: 154040

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C2 PubMed Links

Gene Details

Gene

C2

Gene Name

complement component 2

There are no transcripts associated with this gene.

Gene

C2-AS1

Gene Name

C2 antisense RNA 1

There are no transcripts associated with this gene.

Gene

CFB

Gene Name

complement factor B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001710.5	691	Missense Mutation	CAG,CGG	Q138R	NP_001701.2

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.

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