Product Details

SNP ID

rs76649502

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:41246643 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTCTGCAGCAGACTGTGGCGGGCG[A/G]AGGAGCAGGATTCCAGGGCGCTGTT

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	2156	Missense Mutation	TCC,TTC	S575F	NP_001265580.1
NM_001317930.1	2156	Missense Mutation	TCC,TTC	S575F	NP_001304859.1
NM_002883.3	2156	Missense Mutation	TCC,TTC	S575F	NP_002874.1
XM_005261695.1	2156	Missense Mutation	TCC,TTC	S630F	XP_005261752.1
XM_005261696.1	2156	Missense Mutation	TCC,TTC	S616F	XP_005261753.1
XM_006724289.3	2156	Missense Mutation	TCC,TTC	S575F	XP_006724352.1
XM_011530293.1	2156	Missense Mutation	TCC,TTC	S585F	XP_011528595.1
XM_011530294.2	2156	Missense Mutation	TCC,TTC	S575F	XP_011528596.1
XM_011530295.2	2156	Missense Mutation	TCC,TTC	S575F	XP_011528597.1
XM_011530297.1	2156	Intron			XP_011528599.1
XM_017028893.1	2156	Missense Mutation	TCC,TTC	S575F	XP_016884382.1
XM_017028894.1	2156	Missense Mutation	TCC,TTC	S575F	XP_016884383.1
XM_017028895.1	2156	Missense Mutation	TCC,TTC	S575F	XP_016884384.1
XM_017028896.1	2156	Missense Mutation	TCC,TTC	S575F	XP_016884385.1
XM_017028897.1	2156	Missense Mutation	TCC,TTC	S575F	XP_016884386.1
XM_017028898.1	2156	Missense Mutation	TCC,TTC	S542F	XP_016884387.1
XM_017028899.1	2156	Missense Mutation	TCC,TTC	S530F	XP_016884388.1

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