Product Details

SNP ID

rs149544782

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:41246619 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTTTGAGTCTAGACCTTGTACAGC[A/G]TCTGCAGCAGACTGTGGCGGGCGAA

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	2180	Missense Mutation	ACG,ATG	T583M	NP_001265580.1
NM_001317930.1	2180	Missense Mutation	ACG,ATG	T583M	NP_001304859.1
NM_002883.3	2180	Missense Mutation	ACG,ATG	T583M	NP_002874.1
XM_005261695.1	2180	Missense Mutation	ACG,ATG	T638M	XP_005261752.1
XM_005261696.1	2180	Missense Mutation	ACG,ATG	T624M	XP_005261753.1
XM_006724289.3	2180	Missense Mutation	ACG,ATG	T583M	XP_006724352.1
XM_011530293.1	2180	Missense Mutation	ACG,ATG	T593M	XP_011528595.1
XM_011530294.2	2180	Missense Mutation	ACG,ATG	T583M	XP_011528596.1
XM_011530295.2	2180	Missense Mutation	ACG,ATG	T583M	XP_011528597.1
XM_011530297.1	2180	Intron			XP_011528599.1
XM_017028893.1	2180	Missense Mutation	ACG,ATG	T583M	XP_016884382.1
XM_017028894.1	2180	Missense Mutation	ACG,ATG	T583M	XP_016884383.1
XM_017028895.1	2180	Missense Mutation	ACG,ATG	T583M	XP_016884384.1
XM_017028896.1	2180	Missense Mutation	ACG,ATG	T583M	XP_016884385.1
XM_017028897.1	2180	Missense Mutation	ACG,ATG	T583M	XP_016884386.1
XM_017028898.1	2180	Missense Mutation	ACG,ATG	T550M	XP_016884387.1
XM_017028899.1	2180	Missense Mutation	ACG,ATG	T538M	XP_016884388.1

View Full Product Details