Product Details

SNP ID: rs4422957
Assay Type: Functionally tested
NCBI dbSNP Submissions: 43
Location: Chr.1:74198465 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCACTTCCCGTTTACTTCTCATCTG[C/T]AGGCCTATGACGCTCCCCAGGAGTA
Phenotype: MIM: 603609
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: FPGT PubMed Links

Gene Details

Gene: FPGT
Gene Name: fucose-1-phosphate guanylyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199328.2		Intron			NP_001186257.2
NM_001199329.2		Intron			NP_001186258.2
NM_003838.4		Intron			NP_003829.3

Gene: FPGT-TNNI3K
Gene Name: FPGT-TNNI3K readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001112808.2		Intron			NP_001106279.2
NM_001199327.1		Intron			NP_001186256.2

Gene: LRRIQ3
Gene Name: leucine rich repeats and IQ motif containing 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001105659.1		Intron			NP_001099129.1
NM_001322315.1		Intron			NP_001309244.1
XM_011540658.1		Intron			XP_011538960.1
XM_011540659.1		Intron			XP_011538961.1
XM_011540660.1		Intron			XP_011538962.1
XM_011540662.2		Intron			XP_011538964.1
XM_011540663.2		Intron			XP_011538965.1
XM_017000286.1		Intron			XP_016855775.1
XM_017000287.1		Intron			XP_016855776.1
XM_017000288.1		Intron			XP_016855777.1

View Full Product Details