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SNP ID: rs200960192
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.15:43773310 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TTCCCAGACCTTGTCTTACCTTCCT[C/G]AACTTTTTATATTCCTGGATTATCT
Phenotype: MIM: 609885 MIM: 602046 MIM: 605054
Polymorphism: C/G, Transversion 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	1480	Missense Mutation	TTC,TTG	F359L	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	1480	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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