Product Details

SNP ID

rs192696675

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:56854927 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTTTGCTGTTGTTTTCTTCATCT[C/T]GTCTTTGATGACTTGTCAGCCTGGG

Phenotype

MIM: 120950

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C8A PubMed Links

Gene Details

Gene

C8A

Gene Name

complement component 8 alpha subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000562.2	132	Missense Mutation	TCG,TTG	S9L	NP_000553.1
XM_011542079.2	132	Missense Mutation	TCG,TTG	S9L	XP_011540381.1
XM_017002234.1	132	Missense Mutation	TCG,TTG	S9L	XP_016857723.1

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