Product Details

SNP ID

rs7928305

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:695842 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCGGGTAAGATGGCGGCCCCGCG[A/G]CGAGGTGAGCTCGGGCGGGGTGGGG

Phenotype

MIM: 602635 MIM: 614988

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DEAF1 PubMed Links

Gene Details

Gene

DEAF1

Gene Name

DEAF1, transcription factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001293634.1	252	Intron			NP_001280563.1
NM_021008.3	252	Intron			NP_066288.2
XM_011519842.2	252	Intron			XP_011518144.1

Gene

EPS8L2

Gene Name

EPS8 like 2

There are no transcripts associated with this gene.

Gene

TMEM80

Gene Name

transmembrane protein 80

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042463.2	252	Silent Mutation	CGA,CGG	R78R	NP_001035928.2
NM_001276253.1	252	Silent Mutation	CGA,CGG	R78R	NP_001263182.1
NM_001276274.1	252	Silent Mutation	CGA,CGG	R78R	NP_001263203.1
NM_174940.3	252	Intron			NP_777600.3
XM_006718206.3	252	Silent Mutation	CGA,CGG	R78R	XP_006718269.3
XM_017017600.1	252	Intron			XP_016873089.1

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