Product Details

SNP ID

rs2277800

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:42404027 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CAGCAGCCCCTCGCTCCTGGAGCCC[C/T]TCCTGGCCATGGGCTTCCCGGTGCA

Phenotype

MIM: 605511 MIM: 605736

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TMPRSS3 PubMed Links

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	124	Missense Mutation	CTC,TTC	L28F	NP_001001895.1
NM_001243467.1	124	Missense Mutation	CTC,TTC	L28F	NP_001230396.1
NM_018961.3	124	Missense Mutation	CTC,TTC	L28F	NP_061834.1
XM_006724013.3	124	UTR 5			XP_006724076.1
XM_011529605.2	124	Missense Mutation	CTC,TTC	L28F	XP_011527907.1
XM_011529606.2	124	UTR 5			XP_011527908.1
XM_011529607.2	124	UTR 5			XP_011527909.1
XM_011529609.1	124	Missense Mutation	CTC,TTC	L28F	XP_011527911.1
XM_011529610.2	124	Intron			XP_011527912.1

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