Product Details

SNP ID

rs191920635

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:233840650 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGTGAAGAGCTGCCCTGGTCTCC[C/T]GGTCTGACGGTGTTGTCCACCCCAT

Phenotype

MIM: 612667

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HJURP PubMed Links

Gene Details

Gene

HJURP

Gene Name

Holliday junction recognition protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282962.1	2196	Silent Mutation	CCA,CCG	P656P	NP_001269891.1
NM_001282963.1	2196	Silent Mutation	CCA,CCG	P625P	NP_001269892.1
NM_018410.4	2196	Silent Mutation	CCA,CCG	P710P	NP_060880.3
XM_011511437.1	2196	Silent Mutation	CCA,CCG	P598P	XP_011509739.1

Gene

MROH2A

Gene Name

maestro heat like repeat family member 2A

There are no transcripts associated with this gene.

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