Product Details

SNP ID

rs149340579

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:136853335 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCGCCCCCTTCGCCTGTGACTTC[A/G]AGCAGGACCCCTGCGGCTGGCGGGA

Phenotype

MIM: 605107 MIM: 610167

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C9orf172 PubMed Links

Gene Details

Gene

C9orf172

Gene Name

chromosome 9 open reading frame 172

There are no transcripts associated with this gene.

Gene

EDF1

Gene Name

endothelial differentiation related factor 1

There are no transcripts associated with this gene.

Gene

MAMDC4

Gene Name

MAM domain containing 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_206920.2	255	Missense Mutation	AAG,GAG	K69E	NP_996803.2

Gene

PHPT1

Gene Name

phosphohistidine phosphatase 1

There are no transcripts associated with this gene.

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