Product Details

SNP ID

rs200118388

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:21708602 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGCACCGCTTACTCTCCCAAGATG[A/G]AAGACTGGGCCGGCGTGAACCGCAC

Phenotype

MIM: 167411

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LOC101929608 PubMed Links

Gene Details

Gene

LOC101929608

Gene Name

uncharacterized LOC101929608

There are no transcripts associated with this gene.

Gene

PAX1

Gene Name

paired box 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001257096.1	1015	Missense Mutation	AAA,GAA	K321E	NP_001244025.1
NM_006192.4	1015	Missense Mutation	AAA,GAA	K321E	NP_006183.2

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