Product Details

SNP ID

rs190884433

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:135624362 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGGCGTGGAGCTGGGCCACCAAC[C/G]GGCCCAGGGTCTCCACCCCGAACTC

Phenotype

MIM: 613699

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GLT6D1 PubMed Links

Gene Details

Gene

GLT6D1

Gene Name

glycosyltransferase 6 domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_182974.2	1144	Missense Mutation	CCG,CGG	P189R	NP_892019.2
XM_011518633.1	1144	Missense Mutation	CCG,CGG	P225R	XP_011516935.1
XM_011518634.1	1144	Missense Mutation	CCG,CGG	P225R	XP_011516936.1
XM_011518635.1	1144	Missense Mutation	CCG,CGG	P225R	XP_011516937.1
XM_011518636.1	1144	Missense Mutation	CCG,CGG	P225R	XP_011516938.1
XM_011518637.1	1144	Missense Mutation	CCG,CGG	P189R	XP_011516939.1
XM_011518638.2	1144	Missense Mutation	CCG,CGG	P157R	XP_011516940.1

Gene

LOC102723971

Gene Name

lipocalin 1-like

There are no transcripts associated with this gene.

View Full Product Details