Product Details

SNP ID

rs148113334

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:152084996 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTTTGTGGTGCTTGCCTCCCTTT[A/G]TAGTACCAGCCTCTCTCTCTGAGGG

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LOC100131107 PubMed Links

Gene Details

Gene

LOC100131107

Gene Name

putative UPF0607 protein ENSP00000383783

There are no transcripts associated with this gene.

Gene

TCHHL1

Gene Name

trichohyalin like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008536.1	2751	Nonsense Mutation	CAA,TAA	Q896*	NP_001008536.1

View Full Product Details