Product Details

SNP ID

rs144939492

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:29462378 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGCGTGGATAAGGTAAGACTTGG[G/T]GGCTGGTTTCTTGAGATTTTTTCCT

Phenotype

MIM: 604126

Polymorphism

G/T, Transversion 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	7054	Missense Mutation	ACC,CCC	T1791P	NP_001310528.1
NM_001323600.1	7054	Missense Mutation	ACC,CCC	T1707P	NP_001310529.1
NM_003174.3	7054	Missense Mutation	ACC,CCC	T1675P	NP_003165.2
NM_021738.2	7054	Missense Mutation	ACC,CCC	T2101P	NP_068506.2
XM_005252570.2	7054	Missense Mutation	ACC,CCC	T2143P	XP_005252627.1
XM_005252571.3	7054	Missense Mutation	ACC,CCC	T2143P	XP_005252628.1
XM_005252573.2	7054	Missense Mutation	ACC,CCC	T2143P	XP_005252630.1
XM_011519630.2	7054	Missense Mutation	ACC,CCC	T2202P	XP_011517932.2
XM_011519631.2	7054	Missense Mutation	ACC,CCC	T2196P	XP_011517933.2
XM_011519632.2	7054	Missense Mutation	ACC,CCC	T2171P	XP_011517934.2
XM_011519633.2	7054	Missense Mutation	ACC,CCC	T2154P	XP_011517935.2
XM_011519634.1	7054	Missense Mutation	ACC,CCC	T2143P	XP_011517936.1
XM_011519635.1	7054	Missense Mutation	ACC,CCC	T2143P	XP_011517937.1
XM_011519636.2	7054	Missense Mutation	ACC,CCC	T1918P	XP_011517938.2
XM_011519637.2	7054	Missense Mutation	ACC,CCC	T1834P	XP_011517939.2
XM_011519638.2	7054	Missense Mutation	ACC,CCC	T1802P	XP_011517940.2
XM_017016575.1	7054	Missense Mutation	ACC,CCC	T2228P	XP_016872064.1
XM_017016576.1	7054	Missense Mutation	ACC,CCC	T2201P	XP_016872065.1
XM_017016577.1	7054	Missense Mutation	ACC,CCC	T2186P	XP_016872066.1
XM_017016578.1	7054	Missense Mutation	ACC,CCC	T1886P	XP_016872067.1
XM_017016579.1	7054	Missense Mutation	ACC,CCC	T1876P	XP_016872068.1
XM_017016580.1	7054	Missense Mutation	ACC,CCC	T1861P	XP_016872069.1
XM_017016581.1	7054	Missense Mutation	ACC,CCC	T1792P	XP_016872070.1
XM_017016582.1	7054	Missense Mutation	ACC,CCC	T1760P	XP_016872071.1
XM_017016583.1	7054	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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