Product Details

SNP ID

rs12646808

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:3248101 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CACAGTCCATGCTGCACAGGTGCCG[C/T]GGGCTCCACAGAGCCCTGCCTGACA

Phenotype

MIM: 613004

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HTT PubMed Links

Gene Details

Gene

HTT

Gene Name

huntingtin

There are no transcripts associated with this gene.

Gene

MSANTD1

Gene Name

Myb/SANT DNA binding domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042690.1	4374	Intron			NP_001036155.1
XM_011513465.2	4374	Intron			XP_011511767.1
XM_011513466.2	4374	Intron			XP_011511768.1
XM_011513467.2	4374	UTR 5			XP_011511769.1
XM_017008169.1	4374	Intron			XP_016863658.1

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