Product Details

SNP ID

rs34727318

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:152985468 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCTGCCCTTCAACGGTCACTCCA[A/G]CACCAGCCCAGCAGAAGACCAAGCA

Phenotype

MIM: 182265

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SPRR1A PubMed Links

Gene Details

Gene

SPRR1A

Gene Name

small proline rich protein 1A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199828.1	295	Missense Mutation	ACA,GCA	T80A	NP_001186757.1
NM_005987.3	295	Missense Mutation	ACA,GCA	T80A	NP_005978.2

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