Product Details

SNP ID

rs182741632

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:13882929 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGGCGCTTGAAAGCTTCCAGGTCC[C/T]GGTGGGTGCCCATGATCAGCCGGCT

Phenotype

MIM: 612746 MIM: 608229

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C19orf57 PubMed Links

Gene Details

Gene

C19orf57

Gene Name

chromosome 19 open reading frame 57

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024323.3	2099	Missense Mutation	CAG,CGG	Q596R	NP_077299.3
XM_006722885.3	2099	Missense Mutation	CAG,CGG	Q735R	XP_006722948.2
XM_011528286.2	2099	Intron			XP_011526588.1
XM_011528287.2	2099	Intron			XP_011526589.1
XM_017027300.1	2099	Missense Mutation	CAG,CGG	Q509R	XP_016882789.1
XM_017027301.1	2099	Missense Mutation	CAG,CGG	Q478R	XP_016882790.1

Gene

MIR181C

Gene Name

microRNA 181c

There are no transcripts associated with this gene.

Gene

MIR181D

Gene Name

microRNA 181d

There are no transcripts associated with this gene.

Gene

NANOS3

Gene Name

nanos C2HC-type zinc finger 3

There are no transcripts associated with this gene.

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