Product Details

SNP ID

rs145060091

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:231347881 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAAGGGCATGGTCCAGAATTTTGT[A/G]AACATATGCATCGCATCAACAGCCT

Phenotype

MIM: 616086

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SPRTN PubMed Links

Gene Details

Gene

SPRTN

Gene Name

SprT-like N-terminal domain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001010984.3	854	Missense Mutation	AAA,GAA	K136E	NP_001010984.1
NM_001261462.2	854	Intron			NP_001248391.1
NM_032018.6	854	Missense Mutation	AAA,GAA	K136E	NP_114407.3
XM_006711818.2	854	Intron			XP_006711881.1
XM_011544289.2	854	Intron			XP_011542591.1

View Full Product Details