Product Details

SNP ID

rs2292192

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:69180435 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGCAAGTTTCTGTCCTTGCCACCGC[C/T]TCCTCCTCTGCCTCCGGTGGCTCCA

Phenotype

MIM: 605122 MIM: 605506

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SUPV3L1 PubMed Links

Gene Details

Gene

SUPV3L1

Gene Name

Suv3 like RNA helicase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001301683.1	232	UTR 5			NP_001288612.1
NM_001323584.1	232	UTR 5			NP_001310513.1
NM_001323585.1	232	UTR 5			NP_001310514.1
NM_001323586.1	232	UTR 5			NP_001310515.1
NM_001323587.1	232	UTR 5			NP_001310516.1
NM_001323588.1	232	UTR 5			NP_001310517.1
NM_003171.4	232	Silent Mutation	GCC,GCT	A48A	NP_003162.2

Gene

VPS26A

Gene Name

VPS26, retromer complex component A

There are no transcripts associated with this gene.

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