Product Details

SNP ID

hCV60401841

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:89561643 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCTGTGGATCCGAGGAGGCGGAA[C/T]AAGTCCACGGAGTCCCTGCAGGCCA

Phenotype

MIM: 113703 MIM: 602783

Polymorphism

C/T, 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	388	Silent Mutation	AAC,AAT	N104N	NP_000968.2
NM_001243130.1	388	Silent Mutation	AAC,AAT	N85N	NP_001230059.1
NM_001243131.1	388	Intron			NP_001230060.1
NM_033251.2	388	Silent Mutation	AAC,AAT	N104N	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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