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SNP ID: rs139476430
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:5692148 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCCTCGGTGATGAAGGCTGCCAGGT[A/C]GTAGAAGTCCTTCTTGTTCTCGGCT
Phenotype: MIM: 605490
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: HSD11B1L PubMed Links

Gene Details

Gene: HSD11B1L
Gene Name: hydroxysteroid 11-beta dehydrogenase 1 like

There are no transcripts associated with this gene.

Gene: LONP1
Gene Name: lon peptidase 1, mitochondrial

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001276479.1	2605	Missense Mutation	AAC,CAC	N858H	NP_001263408.1
NM_001276480.1	2605	Missense Mutation	AAC,CAC	N726H	NP_001263409.1
NM_004793.3	2605	Missense Mutation	AAC,CAC	N922H	NP_004784.2
XM_011528441.2	2605	Intron			XP_011526743.1

Gene: RPL36
Gene Name: ribosomal protein L36

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015414.3	2605	Intron			NP_056229.2
NM_033643.2	2605	Intron			NP_378669.1

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