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SNP ID

rs143253536

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:30286885 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCGATGGCTGGAAGCGTCTCAGGG[A/T]CCAGTGTGAGGACACAGAAGCGGTT

Phenotype

MIM: 617034 MIM: 610020

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

GATSL3 PubMed Links

Gene Details

Gene

GATSL3

Gene Name

GATS protein like 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001037666.2	699	Missense Mutation	GAC,GTC	D190V	NP_001032755.1

Gene

TBC1D10A

Gene Name

TBC1 domain family member 10A

There are no transcripts associated with this gene.

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