Product Details

SNP ID

rs143283938

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:45081241 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATCCTGGTGACTCCCTGAATCTGC[C/T]GCAAGCCCAGCTTTGACATTGCCTG

Phenotype

MIM: 607929

Polymorphism

C/T, Transition 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	4190	Missense Mutation	CAG,CGG	Q1427R	NP_001139806.1
XM_006715674.3	4190	Missense Mutation	CAG,CGG	Q1214R	XP_006715737.1

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