Product Details

SNP ID

rs201414507

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:45286066 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAAGAGGCCCTCACTGGCACCCAC[A/G]AGGTCTACCTGTATGTCCTGGTCGA

Phenotype

MIM: 611559

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

UPK3A PubMed Links

Gene Details

Gene

UPK3A

Gene Name

uroplakin 3A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001167574.1	205	Missense Mutation	AAG,GAG	K60E	NP_001161046.1
NM_006953.3	205	Missense Mutation	AAG,GAG	K60E	NP_008884.1

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