Product Details

SNP ID
rs146403956
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.10:29463534 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAGTCTCCATCGCACTCTTCCGGT[C/T]GGAGGCCCAGCGGATGCGGGCGGAA
Phenotype
MIM: 604126
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
SVIL PubMed Links

Gene Details

Gene
SVIL
Gene Name
supervillin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001323599.1 6988 Missense Mutation AAC,GAC N1769D NP_001310528.1
NM_001323600.1 6988 Missense Mutation AAC,GAC N1685D NP_001310529.1
NM_003174.3 6988 Missense Mutation AAC,GAC N1653D NP_003165.2
NM_021738.2 6988 Missense Mutation AAC,GAC N2079D NP_068506.2
XM_005252570.2 6988 Missense Mutation AAC,GAC N2121D XP_005252627.1
XM_005252571.3 6988 Missense Mutation AAC,GAC N2121D XP_005252628.1
XM_005252573.2 6988 Missense Mutation AAC,GAC N2121D XP_005252630.1
XM_011519630.2 6988 Missense Mutation AAC,GAC N2180D XP_011517932.2
XM_011519631.2 6988 Missense Mutation AAC,GAC N2174D XP_011517933.2
XM_011519632.2 6988 Missense Mutation AAC,GAC N2149D XP_011517934.2
XM_011519633.2 6988 Missense Mutation AAC,GAC N2132D XP_011517935.2
XM_011519634.1 6988 Missense Mutation AAC,GAC N2121D XP_011517936.1
XM_011519635.1 6988 Missense Mutation AAC,GAC N2121D XP_011517937.1
XM_011519636.2 6988 Missense Mutation AAC,GAC N1896D XP_011517938.2
XM_011519637.2 6988 Missense Mutation AAC,GAC N1812D XP_011517939.2
XM_011519638.2 6988 Missense Mutation AAC,GAC N1780D XP_011517940.2
XM_017016575.1 6988 Missense Mutation AAC,GAC N2206D XP_016872064.1
XM_017016576.1 6988 Missense Mutation AAC,GAC N2179D XP_016872065.1
XM_017016577.1 6988 Missense Mutation AAC,GAC N2164D XP_016872066.1
XM_017016578.1 6988 Missense Mutation AAC,GAC N1864D XP_016872067.1
XM_017016579.1 6988 Missense Mutation AAC,GAC N1854D XP_016872068.1
XM_017016580.1 6988 Missense Mutation AAC,GAC N1839D XP_016872069.1
XM_017016581.1 6988 Missense Mutation AAC,GAC N1770D XP_016872070.1
XM_017016582.1 6988 Missense Mutation AAC,GAC N1738D XP_016872071.1
XM_017016583.1 6988 Intron XP_016872072.1
Gene
SVIL-AS1
Gene Name
SVIL antisense RNA 1
There are no transcripts associated with this gene.

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