Product Details

SNP ID

rs191131570

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:45081648 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGACTCTGCTTGGCTTTGGCGATGG[A/T]CTCCTCACTGCCGCCTGCTGGGGCC

Phenotype

MIM: 607929

Polymorphism

A/T, 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	4120	Missense Mutation	ACC,TCC	T1404S	NP_001139806.1
XM_006715674.3	4120	Missense Mutation	ACC,TCC	T1191S	XP_006715737.1

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