Product Details

SNP ID

rs148413430

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:236550969 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGCTGAATAGTCTTTTGGCACTGA[C/T]GTTCTACTTCTTCACATTCATCTAA

Phenotype

MIM: 606099

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HEATR1 PubMed Links

Gene Details

Gene

HEATR1

Gene Name

HEAT repeat containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018072.5	4143	Missense Mutation	CAT,CGT	H2123R	NP_060542.4

Gene

LGALS8

Gene Name

galectin 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006499.4	4143	UTR 3			NP_006490.3
NM_201543.2	4143	UTR 3			NP_963837.1
NM_201544.2	4143	UTR 3			NP_963838.1
NM_201545.2	4143	UTR 3			NP_963839.1
XM_011544188.2	4143	Intron			XP_011542490.1
XM_017001274.1	4143	Intron			XP_016856763.1
XM_017001275.1	4143	Intron			XP_016856764.1

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