Product Details

SNP ID

rs112339259

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:240573164 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCACCCGGAGTGCATACATGGAG[A/G]AAGAAGGCGTCTTCCACTTCCACAT

Phenotype

MIM: 605287

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CAPN10-AS1 PubMed Links

Gene Details

Gene

CAPN10-AS1

Gene Name

CAPN10 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

Gene

DUSP28

Gene Name

dual specificity phosphatase 28

There are no transcripts associated with this gene.

Gene

RNPEPL1

Gene Name

arginyl aminopeptidase like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018226.4	724	Missense Mutation	AAA,GAA	K242E	NP_060696.4
XM_005247036.4	724	Missense Mutation	AAA,GAA	K242E	XP_005247093.1

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