Product Details

SNP ID

rs1466428

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:98043711 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TAAAAATACAAAATTTCAGCGTCAA[A/T]TTAGTAGATACTAATGGTTTTAGGA

Phenotype

MIM: 602108 MIM: 180467

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

MATN2 PubMed Links

Gene Details

Gene

MATN2

Gene Name

matrilin 2

There are no transcripts associated with this gene.

Gene

RPL30

Gene Name

ribosomal protein L30

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000989.3		Intron			NP_000980.1

Gene

SNORA72

Gene Name

small nucleolar RNA, H/ACA box 72

There are no transcripts associated with this gene.

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