Product Details

SNP ID

rs212429

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:105877273 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGAAACGCAGGTGAGTTTGGAGCGC[G/T]ACGAGCTACCTTCCCATCTCAGGCT

Phenotype

MIM: 615610

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

ATXN7L1 PubMed Links

Gene Details

Gene

ATXN7L1

Gene Name

ataxin 7 like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318229.1		Intron			NP_001305158.1
NM_020725.1		Intron			NP_065776.1
NM_138495.1		Intron			NP_612504.1
NM_152749.3		Intron			NP_689962.1
XM_005250220.3		Intron			XP_005250277.1
XM_006715900.2		Intron			XP_006715963.1
XM_006715901.2		Intron			XP_006715964.1
XM_006715902.3		Intron			XP_006715965.1
XM_006715903.3		Intron			XP_006715966.1
XM_006715904.3		Intron			XP_006715967.1
XM_011515935.1		Intron			XP_011514237.1
XM_011515936.2		Intron			XP_011514238.1
XM_011515937.2		Intron			XP_011514239.1
XM_011515938.2		Intron			XP_011514240.1
XM_011515939.1		Intron			XP_011514241.1
XM_011515940.1		Intron			XP_011514242.1
XM_011515941.2		Intron			XP_011514243.1
XM_011515942.2		Intron			XP_011514244.1
XM_011515943.2		Intron			XP_011514245.1
XM_011515944.1		Intron			XP_011514246.1
XM_011515945.1		Intron			XP_011514247.1
XM_011515946.1		Intron			XP_011514248.1
XM_011515947.1		Intron			XP_011514249.1
XM_011515950.1		Intron			XP_011514252.1
XM_011515954.2		Intron			XP_011514256.1
XM_017011858.1		Intron			XP_016867347.1
XM_017011859.1		Intron			XP_016867348.1
XM_017011860.1		Intron			XP_016867349.1
XM_017011861.1		Intron			XP_016867350.1

Gene

CDHR3

Gene Name

cadherin related family member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001301161.1		Intron			NP_001288090.1
NM_152750.4		Intron			NP_689963.2
XM_005250224.4		Intron			XP_005250281.1
XM_005250225.2		Intron			XP_005250282.1
XM_006715905.2		Intron			XP_006715968.1
XM_011515955.2		Intron			XP_011514257.1
XM_011515956.2		Intron			XP_011514258.1
XM_011515957.2		Intron			XP_011514259.1
XM_011515958.2		Intron			XP_011514260.1
XM_011515959.2		Intron			XP_011514261.1
XM_017011862.1		Intron			XP_016867351.1
XM_017011863.1		Intron			XP_016867352.1
XM_017011864.1		Intron			XP_016867353.1
XM_017011865.1		Intron			XP_016867354.1
XM_017011866.1		Intron			XP_016867355.1
XM_017011867.1		Intron			XP_016867356.1

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