Product Details

SNP ID

rs6442020

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:46694155 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GTGTGGGTTCGTGGAACTTGGAGCC[G/T]GTAGAGGGGTATACTGAGGCGCCCT

Phenotype

MIM: 612402 MIM: 607237

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ALS2CL PubMed Links

Gene Details

Gene

ALS2CL

Gene Name

ALS2 C-terminal like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001190707.1	356	Intron			NP_001177636.1
NM_147129.4	356	Intron			NP_667340.2
XM_005265025.1	356	Intron			XP_005265082.1
XM_006713091.2	356	Intron			XP_006713154.1
XM_006713093.3	356	Intron			XP_006713156.1
XM_006713094.3	356	Intron			XP_006713157.1
XM_011533572.2	356	Intron			XP_011531874.1
XM_017006120.1	356	Intron			XP_016861609.1

Gene

TMIE

Gene Name

transmembrane inner ear

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_147196.2	356	Intron			NP_671729.2
XM_006713097.3	356	UTR 5			XP_006713160.1

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