Product Details

SNP ID

rs9538494

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:59666827 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGTAGTGTGAACGTGACCCTTCTGT[C/T]AACTGCACTTTCTGATTTTCTACAG

Phenotype

MIM: 614567

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DIAPH3 PubMed Links

Gene Details

Gene

DIAPH3

Gene Name

diaphanous related formin 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042517.1	3558	Silent Mutation	TTA,TTG	L1113L	NP_001035982.1
NM_001258366.1	3558	Silent Mutation	TTA,TTG	L1102L	NP_001245295.1
NM_001258367.1	3558	Silent Mutation	TTA,TTG	L1067L	NP_001245296.1
NM_001258368.1	3558	Silent Mutation	TTA,TTG	L1043L	NP_001245297.1
NM_001258369.1	3558	Intron			NP_001245298.1
NM_001258370.1	3558	Intron			NP_001245299.1
NM_030932.3	3558	Intron			NP_112194.2
XM_006719876.1	3558	Silent Mutation	TTA,TTG	L850L	XP_006719939.1
XM_011535258.2	3558	Intron			XP_011533560.1
XM_011535263.2	3558	Intron			XP_011533565.1
XM_011535265.2	3558	Intron			XP_011533567.1
XM_017020789.1	3558	Intron			XP_016876278.1

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