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SNP ID: rs117693451
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.15:43773339 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTTTTATATTCCTGGATTATCTTGT[C/T]TTCCAGGACCTGAAACAGAAATTAC
Phenotype: MIM: 609885 MIM: 602046 MIM: 605054
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: ELL3 PubMed Links

Gene Details

Gene: ELL3
Gene Name: elongation factor for RNA polymerase II 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_025165.2	1451	Missense Mutation	AAC,GAC	N350D	NP_079441.1

Gene: PDIA3
Gene Name: protein disulfide isomerase family A member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005313.4	1451	Intron			NP_005304.3

Gene: SERF2
Gene Name: small EDRK-rich factor 2

There are no transcripts associated with this gene.

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