Product Details

SNP ID

rs145384305

Assay Type

Functionally tested

NCBI dbSNP Submissions

10

Location

Chr.1:30733899 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCGATGGCAAAGACAGGGCTTCCT[C/T]GTAGGACGGCAGGACCACCTGGGAG

Phenotype

MIM: 601476

Polymorphism

C/T, Transition 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	642	Missense Mutation	AAG,GAG	K240E	NP_006753.1
XM_011542098.2	642	Missense Mutation	AAG,GAG	K183E	XP_011540400.1

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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