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SNP ID: rs139979531
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.20:45898985 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGTGTGGGGGCAGTGGACGCCCTGA[C/T]ATCAGCAGGCCGGTTCTTCTCAATC
Phenotype: MIM: 613111 MIM: 608597 MIM: 172425
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: CTSA PubMed Links

Gene Details

Gene: CTSA
Gene Name: cathepsin A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000308.3	1450	Intron			NP_000299.2
NM_001127695.2	1450	Intron			NP_001121167.1
NM_001167594.2	1450	Intron			NP_001161066.1

Gene: NEURL2
Gene Name: neuralized E3 ubiquitin protein ligase 2

There are no transcripts associated with this gene.

Gene: PLTP
Gene Name: phospholipid transfer protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242920.1	1450	Missense Mutation	ATC,GTC	I385V	NP_001229849.1
NM_001242921.1	1450	Missense Mutation	ATC,GTC	I392V	NP_001229850.1
NM_006227.3	1450	Missense Mutation	ATC,GTC	I480V	NP_006218.1
NM_182676.2	1450	Missense Mutation	ATC,GTC	I428V	NP_872617.1

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