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SNP ID

rs192760986

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:96884782 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGACATGAACGAGTTCACCGTGCAT[A/G]TTCTGGAAACGGTCAATGCACACAT

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	875	Intron			NP_006720.1
NM_007309.3	875	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	875	Missense Mutation	ATT,GTT	I158V	NP_037479.1

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