Product Details

SNP ID

rs146345577

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:40759557 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGACCCCGGCCACCAAGAAGGCT[A/G]TGCAAGGCGGGGGAGCCACCCCCGT

Phenotype

MIM: 182285

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C19orf54 PubMed Links

Gene Details

Gene

C19orf54

Gene Name

chromosome 19 open reading frame 54

There are no transcripts associated with this gene.

Gene

SNRPA

Gene Name

small nuclear ribonucleoprotein polypeptide A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004596.4	928	Missense Mutation	ATG,GTG	M125V	NP_004587.1

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