Product Details

SNP ID

rs199811323

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:32737334 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCGCTAAGTGTACAAGGTATCGGCA[A/G]AAGTTTTCTAACTGAGAAATAGTCC

Phenotype

MIM: 604297

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PAXBP1 PubMed Links

Gene Details

Gene

PAXBP1

Gene Name

PAX3 and PAX7 binding protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013329.3	2746	Intron			NP_037461.2
NM_016631.3	2746	Silent Mutation	TTC,TTT	F852F	NP_057715.2
XM_006724066.1	2746	Silent Mutation	TTC,TTT	F817F	XP_006724129.1
XM_011529804.2	2746	Intron			XP_011528106.1

Gene

PAXBP1-AS1

Gene Name

PAXBP1 antisense RNA 1

There are no transcripts associated with this gene.

Gene

SYNJ1

Gene Name

synaptojanin 1

There are no transcripts associated with this gene.

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