Product Details

SNP ID

rs201302077

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:25587716 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGAGATTACTCTGAGACTGTTCCA[C/T]GGAGGAGGTACGACTCAGGCGAGGT

Phenotype

MIM: 611845

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LINC00515 PubMed Links

Gene Details

Gene

LINC00515

Gene Name

long intergenic non-protein coding RNA 515

There are no transcripts associated with this gene.

Gene

MRPL39

Gene Name

mitochondrial ribosomal protein L39

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017446.3	1049	Intron			NP_059142.2
NM_080794.3	1049	Missense Mutation	CAT,CGT	H348R	NP_542984.2
XM_006724026.3	1049	Missense Mutation	CAT,CGT	H348R	XP_006724089.1
XM_011529651.2	1049	Intron			XP_011527953.1

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