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SNP ID

rs200831818

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:2223675 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATACGGCAGAAGCCCAGGCCGAAG[A/C]CGGGCGGGAAGCGGGCGAGGGTGCA

Phenotype

MIM: 603022 MIM: 172280

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

E4F1 PubMed Links

Gene Details

Gene

E4F1

Gene Name

E4F transcription factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001288776.1	178	Missense Mutation	GAC,GCC	D21A	NP_001275705.1
NM_001288778.1	178	Missense Mutation	GAC,GCC	D21A	NP_001275707.1
NM_004424.4	178	Missense Mutation	GAC,GCC	D21A	NP_004415.3
XM_005255155.1	178	Missense Mutation	GAC,GCC	D21A	XP_005255212.1
XM_005255156.1	178	Missense Mutation	GAC,GCC	D21A	XP_005255213.1
XM_006720858.1	178	Missense Mutation	GAC,GCC	D21A	XP_006720921.1
XM_011522402.1	178	Missense Mutation	GAC,GCC	D21A	XP_011520704.1
XM_011522403.1	178	Missense Mutation	AGA,AGC	R34S	XP_011520705.1
XM_017023010.1	178	Missense Mutation	GAC,GCC	D21A	XP_016878499.1
XM_017023011.1	178	Missense Mutation	AGA,AGC	R34S	XP_016878500.1

Gene

PGP

Gene Name

phosphoglycolate phosphatase

There are no transcripts associated with this gene.

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