Product Details

SNP ID

rs189477293

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:7620353 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTGCGTGTTGTACGTGGCCTGCA[C/T]GCTGCGCCGGATACGCAGCATTTCC

Phenotype

MIM: 612685 MIM: 614770 MIM: 610850

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CAMSAP3 PubMed Links

Gene Details

Gene

CAMSAP3

Gene Name

calmodulin regulated spectrin associated protein family member 3

There are no transcripts associated with this gene.

Gene

MIR6792

Gene Name

microRNA 6792

There are no transcripts associated with this gene.

Gene

PET100

Gene Name

PET100 homolog

There are no transcripts associated with this gene.

Gene

XAB2

Gene Name

XPA binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020196.2	2214	Missense Mutation	ATG,GTG	M730V	NP_064581.2

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