Product Details

SNP ID

rs1050732

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:30732604 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGTCCCCAGAGACCCTGCCTCCG[G/T]GGCCTCCACCTCTGGGTCAGCTCCC

Phenotype

MIM: 601476 MIM: 115437

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

LAPTM5 PubMed Links

Gene Details

Gene

LAPTM5

Gene Name

lysosomal protein transmembrane 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006762.2	1937	UTR 3			NP_006753.1
XM_011542098.2	1937	UTR 3			XP_011540400.1

Gene

MATN1

Gene Name

matrilin 1, cartilage matrix protein

There are no transcripts associated with this gene.

Gene

MATN1-AS1

Gene Name

MATN1 antisense RNA 1

There are no transcripts associated with this gene.

Gene

MIR4420

Gene Name

microRNA 4420

There are no transcripts associated with this gene.

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