Product Details

SNP ID

rs200678180

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:45082873 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGCAGCAGGAGGCGCATCGGGGA[C/G]CTCCCTTGCACCTCCAAGTGCTGAC

Phenotype

MIM: 607929

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CCM2 PubMed Links

Gene Details

Gene

CCM2

Gene Name

CCM2 scaffolding protein

There are no transcripts associated with this gene.

Gene

LOC100128364

Gene Name

uncharacterized LOC100128364

There are no transcripts associated with this gene.

Gene

NACAD

Gene Name

NAC alpha domain containing

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001146334.1	3307	Missense Mutation	CTC,GTC	L1103V	NP_001139806.1
XM_006715674.3	3307	Intron			XP_006715737.1

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