Product Details

SNP ID

rs147664819

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:45899008 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACATCAGCAGGCCGGTTCTTCTCA[A/G]TCACCTCTCGCAGCCCTTTGGCAAA

Phenotype

MIM: 613111 MIM: 608597 MIM: 172425

Polymorphism

A/G, 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	1427	Intron			NP_000299.2
NM_001127695.2	1427	Intron			NP_001121167.1
NM_001167594.2	1427	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	1427	Missense Mutation	ACT,ATT	T377I	NP_001229849.1
NM_001242921.1	1427	Missense Mutation	ACT,ATT	T384I	NP_001229850.1
NM_006227.3	1427	Missense Mutation	ACT,ATT	T472I	NP_006218.1
NM_182676.2	1427	Missense Mutation	ACT,ATT	T420I	NP_872617.1

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