Product Details

SNP ID

rs17850311

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:21211512 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCATCTTCACATTAGTCTCATCT[C/T]TCTTCACGGAGCTGCTGCTCTGCTC

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	936	Missense Mutation	AAA,AGA	K244R	NP_001070910.1
NM_001077443.1	936	Missense Mutation	AAA,AGA	K231R	NP_001070911.1
NM_004500.3	936	Missense Mutation	AAA,AGA	K231R	NP_004491.2
NM_031314.2	936	Missense Mutation	AAA,AGA	K244R	NP_112604.2
XM_006720125.2	936	Missense Mutation	AAA,AGA	K231R	XP_006720188.1
XM_011536708.1	936	Missense Mutation	AAA,AGA	K244R	XP_011535010.1
XM_011536709.2	936	Missense Mutation	AAA,AGA	K244R	XP_011535011.1
XM_011536710.2	936	Missense Mutation	AAA,AGA	K244R	XP_011535012.1
XM_011536711.2	936	Missense Mutation	AAA,AGA	K244R	XP_011535013.1
XM_011536712.1	936	Missense Mutation	AAA,AGA	K231R	XP_011535014.1
XM_017021252.1	936	Missense Mutation	AAA,AGA	K231R	XP_016876741.1
XM_017021253.1	936	Missense Mutation	AAA,AGA	K231R	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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