Product Details

SNP ID

rs150671744

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:29463569 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGGATGCGGGCGGAACCAGTGATC[G/T]TGTTCTCGATGGGCCACCAGCCTTG

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	6953	Missense Mutation	AAG,ACG	K1757T	NP_001310528.1
NM_001323600.1	6953	Missense Mutation	AAG,ACG	K1673T	NP_001310529.1
NM_003174.3	6953	Missense Mutation	AAG,ACG	K1641T	NP_003165.2
NM_021738.2	6953	Missense Mutation	AAG,ACG	K2067T	NP_068506.2
XM_005252570.2	6953	Missense Mutation	AAG,ACG	K2109T	XP_005252627.1
XM_005252571.3	6953	Missense Mutation	AAG,ACG	K2109T	XP_005252628.1
XM_005252573.2	6953	Missense Mutation	AAG,ACG	K2109T	XP_005252630.1
XM_011519630.2	6953	Missense Mutation	AAG,ACG	K2168T	XP_011517932.2
XM_011519631.2	6953	Missense Mutation	AAG,ACG	K2162T	XP_011517933.2
XM_011519632.2	6953	Missense Mutation	AAG,ACG	K2137T	XP_011517934.2
XM_011519633.2	6953	Missense Mutation	AAG,ACG	K2120T	XP_011517935.2
XM_011519634.1	6953	Missense Mutation	AAG,ACG	K2109T	XP_011517936.1
XM_011519635.1	6953	Missense Mutation	AAG,ACG	K2109T	XP_011517937.1
XM_011519636.2	6953	Missense Mutation	AAG,ACG	K1884T	XP_011517938.2
XM_011519637.2	6953	Missense Mutation	AAG,ACG	K1800T	XP_011517939.2
XM_011519638.2	6953	Missense Mutation	AAG,ACG	K1768T	XP_011517940.2
XM_017016575.1	6953	Missense Mutation	AAG,ACG	K2194T	XP_016872064.1
XM_017016576.1	6953	Missense Mutation	AAG,ACG	K2167T	XP_016872065.1
XM_017016577.1	6953	Missense Mutation	AAG,ACG	K2152T	XP_016872066.1
XM_017016578.1	6953	Missense Mutation	AAG,ACG	K1852T	XP_016872067.1
XM_017016579.1	6953	Missense Mutation	AAG,ACG	K1842T	XP_016872068.1
XM_017016580.1	6953	Missense Mutation	AAG,ACG	K1827T	XP_016872069.1
XM_017016581.1	6953	Missense Mutation	AAG,ACG	K1758T	XP_016872070.1
XM_017016582.1	6953	Missense Mutation	AAG,ACG	K1726T	XP_016872071.1
XM_017016583.1	6953	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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