Product Details

SNP ID

rs61760984

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:46812517 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTCCTGCTGCTGGATGAACTAAC[A/G]TGAGTACTGCTTTCATGGGAGCTGG

Phenotype

MIM: 603567

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PIAS2 PubMed Links

Gene Details

Gene

PIAS2

Gene Name

protein inhibitor of activated STAT 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001324046.1	2271	UTR 3			NP_001310975.1
NM_001324047.1	2271	Silent Mutation	CAC,CAT	H586H	NP_001310976.1
NM_001324048.1	2271	Silent Mutation	CAC,CAT	H585H	NP_001310977.1
NM_001324049.1	2271	Silent Mutation	CAC,CAT	H585H	NP_001310978.1
NM_001324051.1	2271	Intron			NP_001310980.1
NM_001324052.1	2271	Intron			NP_001310981.1
NM_001324053.1	2271	Intron			NP_001310982.1
NM_001324054.1	2271	Intron			NP_001310983.1
NM_001324055.1	2271	Intron			NP_001310984.1
NM_001324057.1	2271	Intron			NP_001310986.1
NM_001324058.1	2271	Intron			NP_001310987.1
NM_001324059.1	2271	Intron			NP_001310988.1
NM_001324060.1	2271	Intron			NP_001310989.1
NM_004671.4	2271	Silent Mutation	CAC,CAT	H594H	NP_004662.2
NM_173206.3	2271	Intron			NP_775298.1
XM_005258377.3	2271	Silent Mutation	CAC,CAT	H599H	XP_005258434.1
XM_005258379.3	2271	Silent Mutation	CAC,CAT	H595H	XP_005258436.1
XM_006722571.3	2271	Silent Mutation	CAC,CAT	H634H	XP_006722634.1
XM_006722572.3	2271	Silent Mutation	CAC,CAT	H633H	XP_006722635.1
XM_006722573.2	2271	Intron			XP_006722636.1
XM_011526258.2	2271	Silent Mutation	CAC,CAT	H593H	XP_011524560.1
XM_011526259.2	2271	Silent Mutation	CAC,CAT	H586H	XP_011524561.1
XM_017026068.1	2271	Silent Mutation	CAC,CAT	H586H	XP_016881557.1
XM_017026069.1	2271	Silent Mutation	CAC,CAT	H585H	XP_016881558.1
XM_017026070.1	2271	Silent Mutation	CAC,CAT	H585H	XP_016881559.1
XM_017026071.1	2271	Intron			XP_016881560.1
XM_017026072.1	2271	Intron			XP_016881561.1

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