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SNP ID

rs200369681

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:203863668 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTTTTATGATTATTTCAGAGATC[A/G]CGGATTCAGGTGTGGCTCTATGAGC

Phenotype

MIM: 128260 MIM: 613513

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SNRPE PubMed Links

Gene Details

Gene

SNRPE

Gene Name

small nuclear ribonucleoprotein polypeptide E

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304464.1	162	Silent Mutation	TCA,TCG	S21S	NP_001291393.1
NM_003094.3	162	Silent Mutation	TCA,TCG	S29S	NP_003085.1

Gene

ZC3H11A

Gene Name

zinc finger CCCH-type containing 11A

There are no transcripts associated with this gene.

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