Product Details

SNP ID

rs200403445

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:41737813 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCTGGGCAGATTCTGAATGCTGT[G/T]ACAGTTCACGAGAAACTGCAAGAGG

Phenotype

MIM: 169740 MIM: 600744

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

PGC PubMed Links

Gene Details

Gene

PGC

Gene Name

progastricsin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166424.1	998	Intron			NP_001159896.1
NM_002630.3	998	Missense Mutation	AAC,CAC	N311H	NP_002621.1

Gene

TFEB

Gene Name

transcription factor EB

There are no transcripts associated with this gene.

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