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SNP ID

rs115922397

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:37180173 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGACAGATGAGAAGTTGGAATCCCA[C/T]GGAAGGGAACTTACTTGCCCAGGGT

Phenotype

MIM: 180490

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MROH8 PubMed Links

Gene Details

Gene

MROH8

Gene Name

maestro heat like repeat family member 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152503.5		Intron			NP_689716.4
NM_213631.2		Intron			NP_998796.1
NM_213632.2		Intron			NP_998797.2

Gene

RPN2

Gene Name

ribophorin II

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001135771.2		Intron			NP_001129243.1
NM_001324299.1		Intron			NP_001311228.1
NM_001324301.1		Intron			NP_001311230.1
NM_001324302.1		Intron			NP_001311231.1
NM_001324303.1		Intron			NP_001311232.1
NM_001324304.1		Intron			NP_001311233.1
NM_001324305.1		Intron			NP_001311234.1
NM_001324306.1		Intron			NP_001311235.1
NM_002951.4		Intron			NP_002942.2
XM_006723851.2		Intron			XP_006723914.1
XM_006723852.2		Intron			XP_006723915.1

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