Product Details

SNP ID

rs199946753

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:10923931 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCTCCTGGACACCCTTGCGCCACC[A/G]CAGGAAGCCCCACAGGGCCAGGGGC

Phenotype

MIM: 603934

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C19orf52 PubMed Links

Gene Details

Gene

C19orf52

Gene Name

chromosome 19 open reading frame 52

There are no transcripts associated with this gene.

Gene

CARM1

Gene Name

coactivator associated arginine methyltransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_199141.1	623	Intron			NP_954592.1
XM_005259708.4	623	Intron			XP_005259765.1
XM_011527638.2	623	Intron			XP_011525940.1

Gene

YIPF2

Gene Name

Yip1 domain family member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321439.1	623	Missense Mutation	CGG,TGG	R185W	NP_001308368.1
NM_001321440.1	623	Missense Mutation	CGG,TGG	R146W	NP_001308369.1
NM_024029.4	623	Missense Mutation	CGG,TGG	R185W	NP_076934.1
XM_011528270.2	623	Missense Mutation	CGG,TGG	R185W	XP_011526572.1
XM_011528271.2	623	Missense Mutation	CGG,TGG	R156W	XP_011526573.1

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