Product Details

SNP ID

rs73671307

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:137229025 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCAGCCCCACTTCCCCCAGCCCA[A/G]ATACTGCTGCTGGGGCTGTGGCAGC

Phenotype

MIM: 606073 MIM: 609826

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CYSRT1 PubMed Links

Gene Details

Gene

CYSRT1

Gene Name

cysteine rich tail 1

There are no transcripts associated with this gene.

Gene

NDOR1

Gene Name

NADPH dependent diflavin oxidoreductase 1

There are no transcripts associated with this gene.

Gene

RNF208

Gene Name

ring finger protein 208

There are no transcripts associated with this gene.

Gene

RNF224

Gene Name

ring finger protein 224

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001190228.1	780	Missense Mutation	AAA,AGA	K137R	NP_001177157.1
XM_011518914.2	780	Missense Mutation	AAA,AGA	K137R	XP_011517216.1

Gene

SLC34A3

Gene Name

solute carrier family 34 member 3

There are no transcripts associated with this gene.

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