Product Details

SNP ID

rs200313878

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:111691755 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATCTTTTGAACTTTCACATGTGA[A/G]GCCTTCAGACTCATCTGATAGACAT

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C9orf84 PubMed Links

Gene Details

Gene

C9orf84

Gene Name

chromosome 9 open reading frame 84

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080551.2	4351	Missense Mutation	CTC,TTC	L1305F	NP_001074020.2
NM_173521.4	4351	Missense Mutation	CTC,TTC	L1344F	NP_775792.4
XM_006716974.2	4351	Missense Mutation	CTC,TTC	L1408F	XP_006717037.1
XM_006716975.2	4351	Missense Mutation	CTC,TTC	L1373F	XP_006717038.1
XM_011518302.2	4351	Missense Mutation	CTC,TTC	L1344F	XP_011516604.1
XM_011518303.1	4351	Missense Mutation	CTC,TTC	L1344F	XP_011516605.1
XM_011518306.1	4351	Missense Mutation	CTC,TTC	L1219F	XP_011516608.1
XM_011518309.1	4351	Intron			XP_011516611.1
XM_017014340.1	4351	Missense Mutation	CTC,TTC	L1295F	XP_016869829.1
XM_017014341.1	4351	Intron			XP_016869830.1

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