Product Details

SNP ID
rs200993763
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:13086346 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGATTTTCCTGGCCCACAGGGTTC[A/C]ATCAAATACCTGGACAAGAGCACAT
Phenotype
MIM: 604258
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
DLC1 PubMed Links

Gene Details

Gene
DLC1
Gene Name
DLC1 Rho GTPase activating protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001164271.1 3161 Missense Mutation ATG,ATT M959I NP_001157743.1
NM_001316668.1 3161 Missense Mutation ATG,ATT M1067I NP_001303597.1
NM_006094.4 3161 Missense Mutation ATG,ATT M1033I NP_006085.2
NM_024767.3 3161 Intron NP_079043.3
NM_182643.2 3161 Missense Mutation ATG,ATT M1470I NP_872584.2
XM_005273374.1 3161 Missense Mutation ATG,ATT M1470I XP_005273431.1
XM_017012951.1 3161 Missense Mutation ATG,ATT M1470I XP_016868440.1
XM_017012952.1 3161 Missense Mutation ATG,ATT M959I XP_016868441.1

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