Product Details

SNP ID

rs11557738

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:41246647 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCAGCAGACTGTGGCGGGCGAAGG[A/G]GCAGGATTCCAGGGCGCTGTTGGGC

Phenotype

MIM: 616236 MIM: 602362

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CHADL PubMed Links

Gene Details

Gene

CHADL

Gene Name

chondroadherin like

There are no transcripts associated with this gene.

Gene

MIR6889

Gene Name

microRNA 6889

There are no transcripts associated with this gene.

Gene

RANGAP1

Gene Name

Ran GTPase activating protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001278651.1	2152	Missense Mutation	CCC,TCC	P574S	NP_001265580.1
NM_001317930.1	2152	Missense Mutation	CCC,TCC	P574S	NP_001304859.1
NM_002883.3	2152	Missense Mutation	CCC,TCC	P574S	NP_002874.1
XM_005261695.1	2152	Missense Mutation	CCC,TCC	P629S	XP_005261752.1
XM_005261696.1	2152	Missense Mutation	CCC,TCC	P615S	XP_005261753.1
XM_006724289.3	2152	Missense Mutation	CCC,TCC	P574S	XP_006724352.1
XM_011530293.1	2152	Missense Mutation	CCC,TCC	P584S	XP_011528595.1
XM_011530294.2	2152	Missense Mutation	CCC,TCC	P574S	XP_011528596.1
XM_011530295.2	2152	Missense Mutation	CCC,TCC	P574S	XP_011528597.1
XM_011530297.1	2152	Intron			XP_011528599.1
XM_017028893.1	2152	Missense Mutation	CCC,TCC	P574S	XP_016884382.1
XM_017028894.1	2152	Missense Mutation	CCC,TCC	P574S	XP_016884383.1
XM_017028895.1	2152	Missense Mutation	CCC,TCC	P574S	XP_016884384.1
XM_017028896.1	2152	Missense Mutation	CCC,TCC	P574S	XP_016884385.1
XM_017028897.1	2152	Missense Mutation	CCC,TCC	P574S	XP_016884386.1
XM_017028898.1	2152	Missense Mutation	CCC,TCC	P541S	XP_016884387.1
XM_017028899.1	2152	Missense Mutation	CCC,TCC	P529S	XP_016884388.1

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