Product Details

SNP ID

rs104893855

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:41747479 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCACTGGTGAAAGTGGTGCGGATG[C/A]GCCGCTGCTTGCGCTTCTCGTTGAG

Phenotype

MIM: 603851

Polymorphism

C/A, Transversion substitution

Allele Nomenclature

Literature Links

PHOX2B PubMed Links

Gene Details

Gene

PHOX2B

Gene Name

paired like homeobox 2b

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003924.3	659	Missense Mutation	CGC,CTC	R100L	NP_003915.2

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