Product Details

SNP ID

rs56248314

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17455825 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTGCGGTCCAGCACCTCGGCCGCC[A/T]CCTGCCAGTTGGCGAAGCAGGCGGT

Phenotype

MIM: 608791

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

NXNL1 PubMed Links

Gene Details

Gene

NXNL1

Gene Name

nucleoredoxin-like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138454.1	508	Missense Mutation	GAG,GTG	E154V	NP_612463.1

Gene

TMEM221

Gene Name

transmembrane protein 221

There are no transcripts associated with this gene.

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