Product Details

SNP ID
rs199878395
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:21092296 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGGGCAGGCCCGGAGGCAGGCCCC[A/G]GGGCACGCAGTGGGCCCAGCTTGCT
Phenotype
MIM: 610018 MIM: 605036
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ARHGEF40 PubMed Links

Gene Details

Gene
ARHGEF40
Gene Name
Rho guanine nucleotide exchange factor 40
There are no transcripts associated with this gene.

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 1169 Missense Mutation CCG,CTG P334L NP_001095142.1
NM_001102454.1 1169 Missense Mutation CCG,CTG P334L NP_001095924.1
NM_016423.2 1169 Missense Mutation CCG,CTG P334L NP_057507.2
XM_005267739.1 1169 Missense Mutation CCG,CTG P380L XP_005267796.1
XM_006720163.2 1169 Missense Mutation CCG,CTG P334L XP_006720226.1
XM_006720164.3 1169 Missense Mutation CCG,CTG P334L XP_006720227.1
XM_011536825.1 1169 Missense Mutation CCG,CTG P371L XP_011535127.1
XM_017021354.1 1169 Missense Mutation CCG,CTG P334L XP_016876843.1
XM_017021355.1 1169 Missense Mutation CCG,CTG P334L XP_016876844.1

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