Product Details

SNP ID

rs199651056

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:49115817 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCGTTTCCTGTTCTTGGCATCTC[C/T]GTACTTTGTTGGTCCAACTCAGACA

Phenotype

MIM: 601716

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

STAU1 PubMed Links

Gene Details

Gene

STAU1

Gene Name

staufen double-stranded RNA binding protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001037328.2	1751	Silent Mutation	ACA,ACG	T486T	NP_001032405.1
NM_001319134.1	1751	Silent Mutation	ACA,ACG	T486T	NP_001306063.1
NM_001319135.1	1751	Silent Mutation	ACA,ACG	T561T	NP_001306064.1
NM_001322927.1	1751	Silent Mutation	ACA,ACG	T486T	NP_001309856.1
NM_001322928.1	1751	Silent Mutation	ACA,ACG	T526T	NP_001309857.1
NM_001322929.1	1751	Silent Mutation	ACA,ACG	T561T	NP_001309858.1
NM_001322930.1	1751	Silent Mutation	ACA,ACG	T561T	NP_001309859.1
NM_001322931.1	1751	Silent Mutation	ACA,ACG	T520T	NP_001309860.1
NM_001322932.1	1751	Silent Mutation	ACA,ACG	T567T	NP_001309861.1
NM_001322933.1	1751	Silent Mutation	ACA,ACG	T567T	NP_001309862.1
NM_004602.3	1751	Silent Mutation	ACA,ACG	T480T	NP_004593.2
NM_017452.3	1751	Silent Mutation	ACA,ACG	T480T	NP_059346.2
NM_017453.3	1751	Silent Mutation	ACA,ACG	T561T	NP_059347.2
NM_017454.3	1751	Silent Mutation	ACA,ACG	T480T	NP_059348.2
XM_005260527.1	1751	Silent Mutation	ACA,ACG	T486T	XP_005260584.1
XM_006723865.1	1751	Silent Mutation	ACA,ACG	T567T	XP_006723928.1
XM_011529015.1	1751	Silent Mutation	ACA,ACG	T526T	XP_011527317.1
XM_017028028.1	1751	Silent Mutation	ACA,ACG	T520T	XP_016883517.1

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