Product Details

SNP ID

rs146514223

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:67230180 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCCGCTGCTCACTGCTACTGGGA[A/C]AGAGGGGTTGCTGGGGGCTTCCCCA

Phenotype

MIM: 606881

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

FHOD1 PubMed Links

Gene Details

Gene

FHOD1

Gene Name

formin homology 2 domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318202.1	3506	Missense Mutation	ATC,CTC	I1060L	NP_001305131.1
NM_013241.2	3506	Missense Mutation	ATC,CTC	I1034L	NP_037373.2
XM_006721180.1	3506	Missense Mutation			XP_006721243.1
XM_011523043.2	3506	Missense Mutation			XP_011521345.1
XM_011523044.1	3506	Missense Mutation			XP_011521346.1
XM_011523045.2	3506	Missense Mutation			XP_011521347.1

Gene

LOC105369155

Gene Name

uncharacterized LOC105369155

There are no transcripts associated with this gene.

Gene

LRRC29

Gene Name

leucine rich repeat containing 29

There are no transcripts associated with this gene.

Gene

TMEM208

Gene Name

transmembrane protein 208

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318217.1	3506	Intron			NP_001305146.1
NM_014187.3	3506	Intron			NP_054906.2

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