Product Details

SNP ID

rs200157804

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:141628119 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGGAACTGACAGTATTACCTGGA[C/G]CACAATGCACGTGGGTTGGTAGAAG

Phenotype

MIM: 602121 MIM: 605166 MIM: 611213

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DIAPH1 PubMed Links

Gene Details

Gene

DIAPH1

Gene Name

diaphanous related formin 1

There are no transcripts associated with this gene.

Gene

HDAC3

Gene Name

histone deacetylase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003883.3	826	Missense Mutation	CTC,GTC	L254V	NP_003874.2
XM_011537697.2	826	Missense Mutation	CTC,GTC	L67V	XP_011535999.1

Gene

RELL2

Gene Name

RELT like 2

There are no transcripts associated with this gene.

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