Product Details

SNP ID

rs139923577

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:153775766 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTTTCTCATTCACGGCTCGCGGC[A/G]CTTTAGCTACTCAGAGGCGGAGCGC

Phenotype

MIM: 611347 MIM: 604193

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

INTS3 PubMed Links

Gene Details

Gene

INTS3

Gene Name

integrator complex subunit 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001324475.1	475	Intron			NP_001311404.1
NM_023015.4	475	Intron			NP_075391.3
XM_005245459.2	475	Intron			XP_005245516.1
XM_005245461.2	475	Intron			XP_005245518.1
XM_006711490.3	475	Intron			XP_006711553.1
XM_011509906.2	475	Intron			XP_011508208.1
XM_017002132.1	475	Intron			XP_016857621.1

Gene

SLC27A3

Gene Name

solute carrier family 27 member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001317929.1	475	Missense Mutation	CAC,CGC	H137R	NP_001304858.1
NM_024330.1	475	Missense Mutation	CAC,CGC	H137R	NP_077306.1

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