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SNP ID

rs150277198

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:74199729 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATAACAGCGGCTGATGAAAAACAG[A/G]AACTTGCTTACAACCAACAGCTGTC

Phenotype

MIM: 603609

Polymorphism

A/G, 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	215	Missense Mutation	AAA,GAA	K63E	NP_001186257.2
NM_001199329.2	215	Missense Mutation	AAA,GAA	K63E	NP_001186258.2
NM_003838.4	215	Missense Mutation	AAA,GAA	K63E	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	215	Missense Mutation	AAA,GAA	K63E	NP_001106279.2
NM_001199327.1	215	Missense Mutation	AAA,GAA	K63E	NP_001186256.2

Gene

LRRIQ3

Gene Name

leucine rich repeats and IQ motif containing 3

There are no transcripts associated with this gene.

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