Product Details

SNP ID

rs138705012

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:67230450 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCGTGTGGCAGAACTGCATGATG[C/T]GCACTTCACGGGCCGCCTGCGGGGT

Phenotype

MIM: 606881

Polymorphism

C/T, Transition 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	3321	Missense Mutation	CAC,CGC	H998R	NP_001305131.1
NM_013241.2	3321	Missense Mutation	CAC,CGC	H972R	NP_037373.2
XM_006721180.1	3321	Missense Mutation	CAC,CGC	H503R	XP_006721243.1
XM_011523043.2	3321	Missense Mutation	CAC,CGC	H988R	XP_011521345.1
XM_011523044.1	3321	Missense Mutation	CAC,CGC	H944R	XP_011521346.1
XM_011523045.2	3321	Missense Mutation	CAC,CGC	H905R	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

There are no transcripts associated with this gene.

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