Product Details

SNP ID

rs201050988

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.21:42403995 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACGCCAAGGTCTCCAACAAGCTCA[A/G]GAGCCGCAGCAGCCCCTCGCTCCTG

Phenotype

MIM: 605511 MIM: 605736

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

TMPRSS3 PubMed Links

Additional Information

For this assay, SNP(s) [rs2277798] 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

TMPRSS3

Gene Name

transmembrane protease, serine 3

There are no transcripts associated with this gene.

Gene

UBASH3A

Gene Name

ubiquitin associated and SH3 domain containing A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001895.2	92	Missense Mutation	AAG,AGG	K17R	NP_001001895.1
NM_001243467.1	92	Missense Mutation	AAG,AGG	K17R	NP_001230396.1
NM_018961.3	92	Missense Mutation	AAG,AGG	K17R	NP_061834.1
XM_006724013.3	92	UTR 5			XP_006724076.1
XM_011529605.2	92	Missense Mutation	AAG,AGG	K17R	XP_011527907.1
XM_011529606.2	92	UTR 5			XP_011527908.1
XM_011529607.2	92	UTR 5			XP_011527909.1
XM_011529609.1	92	Missense Mutation	AAG,AGG	K17R	XP_011527911.1
XM_011529610.2	92	Intron			XP_011527912.1

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