Product Details

SNP ID
rs1130679
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:37179315 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGGAGCCACTTTCCCGAGCGGAA[C/G]TCAGCCCGCGGCTCGGACTCCGGCG
Phenotype
MIM: 180490
Polymorphism
C/G, Transversion 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_152503.5 303 Missense Mutation GAC,GAG D65E NP_689716.4
NM_213631.2 303 Missense Mutation GAC,GAG D65E NP_998796.1
NM_213632.2 303 Missense Mutation GAC,GAG D65E NP_998797.2
Gene
RPN2
Gene Name
ribophorin II
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135771.2 303 UTR 5 NP_001129243.1
NM_001324299.1 303 UTR 5 NP_001311228.1
NM_001324301.1 303 UTR 5 NP_001311230.1
NM_001324302.1 303 UTR 5 NP_001311231.1
NM_001324303.1 303 UTR 5 NP_001311232.1
NM_001324304.1 303 UTR 5 NP_001311233.1
NM_001324305.1 303 UTR 5 NP_001311234.1
NM_001324306.1 303 UTR 5 NP_001311235.1
NM_002951.4 303 UTR 5 NP_002942.2
XM_006723851.2 303 UTR 5 XP_006723914.1
XM_006723852.2 303 UTR 5 XP_006723915.1

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