Product Details

SNP ID

rs149937331

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:136945763 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACAGCCATGGCTGTCAGTACCTTC[C/T]GAAAGCTGTGAGTCCCAGAGCAGCC

Phenotype

MIM: 120930 MIM: 609072 MIM: 612905

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C8G PubMed Links

Gene Details

Gene

C8G

Gene Name

complement component 8, gamma polypeptide

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000606.2	343	Nonsense Mutation	CGA,TGA	R90*	NP_000597.2

Gene

FBXW5

Gene Name

F-box and WD repeat domain containing 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018998.3	343	Intron			NP_061871.1
XM_005266089.2	343	Intron			XP_005266146.2
XM_011518789.1	343	Intron			XP_011517091.1
XM_017014812.1	343	Intron			XP_016870301.1

Gene

LCN12

Gene Name

lipocalin 12

There are no transcripts associated with this gene.

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