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SNP ID: rs201385630
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.14:21090674 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCGGGGACGCGTCAGCCTGGGGTGG[A/C]CGGCGGCCCCTAGCCCGGCGGCTGT
Phenotype: MIM: 610018 MIM: 605036
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: ARHGEF40 PubMed Links

Gene Details

Gene: ARHGEF40
Gene Name: Rho guanine nucleotide exchange factor 40

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278529.1	2199	Intron			NP_001265458.1
NM_001278530.1	2199	Intron			NP_001265459.1
NM_018071.4	2199	Intron			NP_060541.3
XM_005267844.2	2199	Intron			XP_005267901.1
XM_011536937.2	2199	Intron			XP_011535239.1
XM_011536938.2	2199	Intron			XP_011535240.1
XM_017021434.1	2199	Intron			XP_016876923.1
XM_017021435.1	2199	Intron			XP_016876924.1
XM_017021436.1	2199	Intron			XP_016876925.1
XM_017021437.1	2199	Intron			XP_016876926.1

Gene: TMEM253
Gene Name: transmembrane protein 253

There are no transcripts associated with this gene.

Gene: ZNF219
Gene Name: zinc finger protein 219

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001101672.1	2199	Silent Mutation	CGG,CGT	R677R	NP_001095142.1
NM_001102454.1	2199	Silent Mutation	CGG,CGT	R677R	NP_001095924.1
NM_016423.2	2199	Silent Mutation	CGG,CGT	R677R	NP_057507.2
XM_005267739.1	2199	Silent Mutation	CGG,CGT	R723R	XP_005267796.1
XM_006720163.2	2199	Silent Mutation	CGG,CGT	R677R	XP_006720226.1
XM_006720164.3	2199	Silent Mutation	CGG,CGT	R677R	XP_006720227.1
XM_011536825.1	2199	Silent Mutation	CGG,CGT	R714R	XP_011535127.1
XM_017021354.1	2199	Silent Mutation	CGG,CGT	R677R	XP_016876843.1
XM_017021355.1	2199	Silent Mutation	CGG,CGT	R677R	XP_016876844.1

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