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SNP ID

rs149368985

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:69960742 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCAAACTCATCTTCCAGGGACCCT[C/T]CCACAGGCAGAAGGCGAAACTTCTT

Phenotype

MIM: 611765

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ASPRV1 PubMed Links

Gene Details

Gene

ASPRV1

Gene Name

aspartic peptidase, retroviral-like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152792.2	1524	Missense Mutation	GAA,GGA	E316G	NP_690005.2

Gene

PCBP1-AS1

Gene Name

PCBP1 antisense RNA 1

There are no transcripts associated with this gene.

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