Product Details

SNP ID

rs202067524

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:96884442 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCAAAGACCTAAGGTCCGAATTCA[G/T]GACGTTGTACCGTGTAATGTGAACC

Phenotype

MIM: 300108 MIM: 300767

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

DIAPH2 PubMed Links

Gene Details

Gene

DIAPH2

Gene Name

diaphanous related formin 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006729.4	535	Intron			NP_006720.1
NM_007309.3	535	Intron			NP_009293.1

Gene

RPA4

Gene Name

replication protein A4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013347.4	535	Missense Mutation	CAG,CAT	Q44H	NP_037479.1

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