Product Details

SNP ID

rs201220085

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:173332852 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATATTTCTCCTTTAGCTTAGCTGCT[C/T]TCTGTTCATATGGTTGTTTATCTTT

Phenotype

MIM: 605005 MIM: 163906

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GALNT7 PubMed Links

Gene Details

Gene

GALNT7

Gene Name

polypeptide N-acetylgalactosaminyltransferase 7

There are no transcripts associated with this gene.

Gene

HMGB2

Gene Name

high mobility group box 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130688.1	573	Missense Mutation	AAA,AGA	K147R	NP_001124160.1
NM_001130689.1	573	Missense Mutation	AAA,AGA	K147R	NP_001124161.1
NM_002129.3	573	Missense Mutation	AAA,AGA	K147R	NP_002120.1

Gene

LOC105377538

Gene Name

uncharacterized LOC105377538

There are no transcripts associated with this gene.

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