Product Details

SNP ID

rs201881520

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:23310583 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGATGGGTTGGGAACCCCAGTTCTG[C/T]TGGTTGTTGGTCTGACGACGCTTGG

Phenotype

MIM: 607201

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HNRNPR PubMed Links

Gene Details

Gene

HNRNPR

Gene Name

heterogeneous nuclear ribonucleoprotein R

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001102397.2	1945	Intron			NP_001095867.1
NM_001102398.2	1945	Silent Mutation	CAA,CAG	Q594Q	NP_001095868.1
NM_001102399.2	1945	Intron			NP_001095869.1
NM_001297620.1	1945	Silent Mutation	CAA,CAG	Q553Q	NP_001284549.1
NM_001297621.1	1945	Intron			NP_001284550.1
NM_001297622.1	1945	Intron			NP_001284551.1
NM_005826.4	1945	Silent Mutation	CAA,CAG	Q591Q	NP_005817.1
XM_005245711.4	1945	Silent Mutation	CAA,CAG	Q591Q	XP_005245768.1
XM_011540471.2	1945	Silent Mutation	CAA,CAG	Q594Q	XP_011538773.1
XM_011540472.2	1945	Intron			XP_011538774.1
XM_011540474.2	1945	Silent Mutation	CAA,CAG	Q556Q	XP_011538776.1
XM_011540475.2	1945	Silent Mutation	CAA,CAG	Q556Q	XP_011538777.1
XM_011540476.2	1945	Silent Mutation	CAA,CAG	Q455Q	XP_011538778.1
XM_011540477.2	1945	Silent Mutation	CAA,CAG	Q434Q	XP_011538779.1
XM_017000008.1	1945	Silent Mutation	CAA,CAG	Q553Q	XP_016855497.1
XM_017000009.1	1945	Silent Mutation	CAA,CAG	Q532Q	XP_016855498.1
XM_017000010.1	1945	Silent Mutation	CAA,CAG	Q532Q	XP_016855499.1

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