Product Details

SNP ID

rs80172172

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:27547399 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATGACTGACCAGTGAAATCTGAA[C/T]TTGTTCCAAGTAATTAGATTTTCTA

Phenotype

MIM: 614260

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C9orf72 PubMed Links

Gene Details

Gene

C9orf72

Gene Name

chromosome 9 open reading frame 72

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256054.2	2390	UTR 3			NP_001242983.1
NM_018325.4	2390	UTR 3			NP_060795.1
NM_145005.6	2390	Intron			NP_659442.2

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