Product Details

SNP ID

rs200709234

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:33152770 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACCTTCTCCATCTCGATCTGCTGG[C/T]GGTAGTGCCGAGCCTGCCGCTGGCC

Phenotype

MIM: 605497

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CRTAP PubMed Links

Gene Details

Gene

CRTAP

Gene Name

cartilage associated protein

There are no transcripts associated with this gene.

Gene

SUSD5

Gene Name

sushi domain containing 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015551.1	2280	Missense Mutation	CAC,CGC	H621R	NP_056366.1
XM_005265034.3	2280	Missense Mutation	CAC,CGC	H558R	XP_005265091.1
XM_017006137.1	2280	Missense Mutation	CAC,CGC	H511R	XP_016861626.1

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