Product Details

SNP ID

rs150547120

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:96884747 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGAGCCTTGAGGTATTGAAAATTC[A/G]TGTCCTAGAGGACATGAACGAGTTC

Phenotype

MIM: 300108 MIM: 300767

Polymorphism

A/G, Transition 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	840	Intron			NP_006720.1
NM_007309.3	840	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	840	Missense Mutation	CAT,CGT	H146R	NP_037479.1

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