Product Details

SNP ID

rs199566978

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:39143353 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGCTGAGATCCACTGAGCTACTC[C/T]GGCCAGCGTCCATGCTGGGTGGCAC

Phenotype

MIM: 606458 MIM: 611430

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CSRNP1 PubMed Links

Gene Details

Gene

CSRNP1

Gene Name

cysteine and serine rich nuclear protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320559.1	1686	Missense Mutation	CAG,CGG	Q511R	NP_001307488.1
NM_001320560.1	1686	Missense Mutation	CAG,CGG	Q491R	NP_001307489.1
NM_033027.3	1686	Missense Mutation	CAG,CGG	Q491R	NP_149016.2
XM_017007048.1	1686	Missense Mutation	CAG,CGG	Q491R	XP_016862537.1
XM_017007049.1	1686	Missense Mutation	CAG,CGG	Q231R	XP_016862538.1

Gene

MIR6822

Gene Name

microRNA 6822

There are no transcripts associated with this gene.

Gene

TTC21A

Gene Name

tetratricopeptide repeat domain 21A

There are no transcripts associated with this gene.

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