Product Details

SNP ID

rs140271304

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:130679357 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAATCCCATCTCTAGAAGCAGTTAC[A/G]ATGAAGCCCTGTGTGGTCTGGAATG

Phenotype

MIM: 616613 MIM: 602610

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

COL6A6 PubMed Links

Gene Details

Gene

COL6A6

Gene Name

collagen type VI alpha 6

There are no transcripts associated with this gene.

Gene

PIK3R4

Gene Name

phosphoinositide-3-kinase regulatory subunit 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014602.2	4616	Silent Mutation	ATC,ATT	I1345I	NP_055417.1

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