Product Details

SNP ID

rs189172711

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:136844937 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCCGCGGGCCGCTGCGCACCGCCC[A/G]AGCCACCCGCGGGTCCCGCCCCCCA

Phenotype

MIM: 610167 MIM: 610615

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C9orf172 PubMed Links

Gene Details

Gene

C9orf172

Gene Name

chromosome 9 open reading frame 172

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080482.2	523	Missense Mutation	AAG,GAG	K175E	NP_001073951.2

Gene

MAMDC4

Gene Name

MAM domain containing 4

There are no transcripts associated with this gene.

Gene

PHPT1

Gene Name

phosphohistidine phosphatase 1

There are no transcripts associated with this gene.

Gene

RABL6

Gene Name

RAB, member RAS oncogene family-like 6

There are no transcripts associated with this gene.

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