Product Details

SNP ID

rs200428366

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:30292596 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCCTCTCCCCTTCATCTGTTTCC[A/G]CTGCTCCTTCTGGGCCTGCTTGGGT

Phenotype

MIM: 617034 MIM: 610020

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GATSL3 PubMed Links

Gene Details

Gene

GATSL3

Gene Name

GATS protein like 3

There are no transcripts associated with this gene.

Gene

TBC1D10A

Gene Name

TBC1 domain family member 10A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204240.1	1412	Missense Mutation	CGG,TGG	R443W	NP_001191169.1
NM_031937.2	1412	Missense Mutation	CGG,TGG	R436W	NP_114143.1

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