Product Details

SNP ID
rs149944420
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.6:31952337 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACAAGGTTTTCCTTGTAGACGTC[A/G]TCACTGTAGACAATCTGGGTCCTCT
Phenotype
MIM: 613927 MIM: 138470 MIM: 154040 MIM: 600478
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
CFB
Gene Name
complement factor B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001710.5 1311 Intron 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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002904.5 1311 Silent Mutation GAC,GAT D369D NP_002895.3
XM_006715205.3 1311 Silent Mutation GAC,GAT D364D XP_006715268.1
XM_011514913.2 1311 Silent Mutation GAC,GAT D314D XP_011513215.1
XM_017011299.1 1311 Silent Mutation GAC,GAT D309D XP_016866788.1
Gene
SKIV2L
Gene Name
Ski2 like RNA helicase
There are no transcripts associated with this gene.

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