Product Details

SNP ID
rs200530724
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:28855055 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTAATGGCTGCCCCCAGCTGGCG[C/T]GGGGCTAGGCTTGTTCAATCGGTGT
Phenotype
MIM: 607435 MIM: 612070 MIM: 612071
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ERAL1 PubMed Links

Gene Details

Gene
ERAL1
Gene Name
Era like 12S mitochondrial rRNA chaperone 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317985.1 99 Silent Mutation CGC,CGT R7R NP_001304914.1
NM_001317986.1 99 Silent Mutation CGC,CGT R7R NP_001304915.1
NM_005702.3 99 Silent Mutation CGC,CGT R7R NP_005693.1
Gene
FAM222B
Gene Name
family with sequence similarity 222 member B
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001077498.2 99 Intron NP_001070966.1
NM_001288631.1 99 Intron NP_001275560.1
NM_001288632.1 99 Intron NP_001275561.1
NM_001288633.1 99 Intron NP_001275562.1
NM_001288634.1 99 Intron NP_001275563.1
NM_001288635.1 99 Intron NP_001275564.1
NM_001288636.1 99 Intron NP_001275565.1
NM_001288637.1 99 Intron NP_001275566.1
NM_001288638.1 99 Intron NP_001275567.1
NM_001288639.1 99 Intron NP_001275568.1
NM_001288640.1 99 Intron NP_001275569.1
NM_018182.3 99 Intron NP_060652.2
XM_011524986.2 99 Intron XP_011523288.1
XM_011524987.1 99 Intron XP_011523289.1
XM_011524988.2 99 Intron XP_011523290.1
XM_017024831.1 99 Intron XP_016880320.1
XM_017024832.1 99 Intron XP_016880321.1
XM_017024833.1 99 Intron XP_016880322.1
XM_017024834.1 99 Intron XP_016880323.1
XM_017024835.1 99 Intron XP_016880324.1
Gene
MIR144
Gene Name
microRNA 144
There are no transcripts associated with this gene.

Gene
MIR451A
Gene Name
microRNA 451a
There are no transcripts associated with this gene.

Gene
MIR451B
Gene Name
microRNA 451b
There are no transcripts associated with this gene.

Gene
MIR4732
Gene Name
microRNA 4732
There are no transcripts associated with this gene.

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