Product Details

SNP ID

rs9930567

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:89561665 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GAACAAGTCCACGGAGTCCCTGCAG[A/G]CCAACGTGCAGCGGCTGAAGGAGTA

Phenotype

MIM: 113703 MIM: 602783

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

RPL13 PubMed Links

Gene Details

Gene

RPL13

Gene Name

ribosomal protein L13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000977.3	410	Missense Mutation	ACC,GCC	T112A	NP_000968.2
NM_001243130.1	410	Missense Mutation	ACC,GCC	T93A	NP_001230059.1
NM_001243131.1	410	Intron			NP_001230060.1
NM_033251.2	410	Missense Mutation	ACC,GCC	T112A	NP_150254.1

Gene

SNORD68

Gene Name

small nucleolar RNA, C/D box 68

There are no transcripts associated with this gene.

Gene

SPG7

Gene Name

SPG7, paraplegin matrix AAA peptidase subunit

There are no transcripts associated with this gene.

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