Product Details

SNP ID

rs200796048

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:152972071 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAATGCCCACCGAAAGGCACCATC[A/G]TTCCAGCCCAGCAGAAGTGTCCCTC

Phenotype

MIM: 616363

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SPRR4 PubMed Links

Gene Details

Gene

SPRR4

Gene Name

small proline rich protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173080.2	939	Missense Mutation	ATT,GTT	I61V	NP_775103.1
XM_017000482.1	939	Missense Mutation	ATT,GTT	I61V	XP_016855971.1

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