Product Details

SNP ID

rs200193714

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:16732221 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGTTTGGTCATGTGGTGGACATTG[A/T]GGCTTTAAAGACCATGAAGATGAGG

Phenotype

MIM: 603520

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

SNRPB2 PubMed Links

Gene Details

Gene

SNRPB2

Gene Name

small nuclear ribonucleoprotein polypeptide B2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003092.4	258	Missense Mutation	GAG,GTG	E41V	NP_003083.1
NM_198220.2	258	Missense Mutation	GAG,GTG	E41V	NP_937863.1

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