Product Details

SNP ID

rs181943893

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.20:45891622 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTGCTGCTGCTGCTGCTGCTGCT[C/G]CTAGTGTCCTGGGCGTCCCGAGGCG

Phenotype

MIM: 613111 MIM: 608597 MIM: 172425

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

CTSA PubMed Links

Additional Information

For this assay, SNP(s) [rs564815597] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

CTSA

Gene Name

cathepsin A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000308.3	1290	Silent Mutation	CTC,CTG	L36L	NP_000299.2
NM_001127695.2	1290	Silent Mutation	CTC,CTG	L18L	NP_001121167.1
NM_001167594.2	1290	Silent Mutation	CTC,CTG	L36L	NP_001161066.1

Gene

NEURL2

Gene Name

neuralized E3 ubiquitin protein ligase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278535.1	1290	Intron			NP_001265464.1
NM_080749.3	1290	Intron			NP_542787.1

Gene

PLTP

Gene Name

phospholipid transfer protein

There are no transcripts associated with this gene.

Gene

SPATA25

Gene Name

spermatogenesis associated 25

There are no transcripts associated with this gene.

Gene

ZSWIM1

Gene Name

zinc finger SWIM-type containing 1

There are no transcripts associated with this gene.

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