Product Details

SNP ID

rs200201878

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:21211290 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTTCCTCAGCCTCTTTTTCATCA[C/T]CCTTGATCAACTCCAGCTGTGAGAA

Phenotype

MIM: 164020

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HNRNPC PubMed Links

Gene Details

Gene

HNRNPC

Gene Name

heterogeneous nuclear ribonucleoprotein C (C1/C2)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077442.1	1059	Missense Mutation	GAT,GGT	D285G	NP_001070910.1
NM_001077443.1	1059	Missense Mutation	GAT,GGT	D272G	NP_001070911.1
NM_004500.3	1059	Missense Mutation	GAT,GGT	D272G	NP_004491.2
NM_031314.2	1059	Missense Mutation	GAT,GGT	D285G	NP_112604.2
XM_006720125.2	1059	Missense Mutation	GAT,GGT	D272G	XP_006720188.1
XM_011536708.1	1059	Missense Mutation	GAT,GGT	D285G	XP_011535010.1
XM_011536709.2	1059	Missense Mutation	GAT,GGT	D285G	XP_011535011.1
XM_011536710.2	1059	Missense Mutation	GAT,GGT	D285G	XP_011535012.1
XM_011536711.2	1059	Missense Mutation	GAT,GGT	D285G	XP_011535013.1
XM_011536712.1	1059	Missense Mutation	GAT,GGT	D272G	XP_011535014.1
XM_017021252.1	1059	Missense Mutation	GAT,GGT	D272G	XP_016876741.1
XM_017021253.1	1059	Missense Mutation	GAT,GGT	D272G	XP_016876742.1

Gene

LINC00641

Gene Name

long intergenic non-protein coding RNA 641

There are no transcripts associated with this gene.

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