Product Details

SNP ID

rs138727638

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:177090479 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGCGTCTGTGCTGTGGGCGGGCT[A/G]AGCGTGGTGGCCACTGGTACAAGGA

Phenotype

MIM: 134935 MIM: 605308

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FGFR4 PubMed Links

Gene Details

Gene

FGFR4

Gene Name

fibroblast growth factor receptor 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291980.1	348	Missense Mutation	AAG,GAG	K61E	NP_001278909.1
NM_002011.4	348	Missense Mutation	AAG,GAG	K61E	NP_002002.3
NM_022963.3	348	Missense Mutation	AAG,GAG	K61E	NP_075252.2
NM_213647.2	348	Missense Mutation	AAG,GAG	K61E	NP_998812.1
XM_005265838.3	348	Missense Mutation	AAG,GAG	K61E	XP_005265895.1
XM_011534464.2	348	Missense Mutation	AAG,GAG	K92E	XP_011532766.1
XM_011534465.2	348	UTR 5			XP_011532767.1

Gene

ZNF346

Gene Name

zinc finger protein 346

There are no transcripts associated with this gene.

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