Product Details

SNP ID

rs141734238

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:55174970 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCGGCCGTGGGGACATAGCGGAG[C/G]GAGAAGCAGATGTCCCCAAGCTTCT

Phenotype

MIM: 614566 MIM: 602510 MIM: 600782

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

DNAAF3 PubMed Links

Additional Information

For this assay, SNP(s) [rs12459917] are located under a primer 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

DNAAF3

Gene Name

dynein axonemal assembly factor 3

There are no transcripts associated with this gene.

Gene

PTPRH

Gene Name

protein tyrosine phosphatase, receptor type H

There are no transcripts associated with this gene.

Gene

SYT5

Gene Name

synaptotagmin 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001297774.1	1105	Silent Mutation	TCC,TCG	S242S	NP_001284703.1
NM_003180.2	1105	Silent Mutation	TCC,TCG	S246S	NP_003171.2
XM_006723339.3	1105	Silent Mutation	TCC,TCG	S246S	XP_006723402.1
XM_006723340.3	1105	Silent Mutation	TCC,TCG	S245S	XP_006723403.1
XM_006723341.3	1105	Silent Mutation	TCC,TCG	S243S	XP_006723404.1
XM_017027175.1	1105	Silent Mutation	TCC,TCG	S246S	XP_016882664.1
XM_017027176.1	1105	Silent Mutation	TCC,TCG	S246S	XP_016882665.1

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