Product Details

SNP ID

rs199602127

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:150666822 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTCCAACACTGATTCTTGCCTGTT[A/G]GCCCATTGCTAGAAAAGTTATAGAA

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ERICH6 PubMed Links

Gene Details

Gene

ERICH6

Gene Name

glutamate rich 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308234.1	1462	Nonsense Mutation	CAA,TAA	Q419*	NP_001295163.1
NM_152394.4	1462	Nonsense Mutation	CAA,TAA	Q565*	NP_689607.2
XM_005247120.3	1462	Intron			XP_005247177.1

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