Product Details

SNP ID

rs11539157

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:69161421 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGTGGCACGGCAGCTCAGTTGCCAC[A/C]TCCCCCTTCACATATTCGCTACAGC

Phenotype

MIM: 300420

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

PJA1 PubMed Links

Gene Details

Gene

PJA1

Gene Name

praja ring finger ubiquitin ligase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001032396.2	1633	Missense Mutation	GAG,GAT	E551D	NP_001027568.1
NM_022368.4	1633	Missense Mutation	GAG,GAT	E418D	NP_071763.2
NM_145119.3	1633	Missense Mutation	GAG,GAT	E606D	NP_660095.1
XM_005262292.1	1633	Missense Mutation	GAG,GAT	E551D	XP_005262349.1
XM_011531011.2	1633	Missense Mutation	GAG,GAT	E606D	XP_011529313.1

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