Product Details

SNP ID

rs201072896

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:51017556 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTCTCTGGCCTCTGTTCATTCACA[C/T]GAGCAAGGGCACCTGCAGGGAAGAG

Phenotype

MIM: 610317

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COBL PubMed Links

Gene Details

Gene

COBL

Gene Name

cordon-bleu WH2 repeat protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001287436.1	4002	Missense Mutation	ATG,GTG	M1271V	NP_001274365.1
NM_001287438.1	4002	Intron			NP_001274367.1
NM_015198.3	4002	Missense Mutation	ATG,GTG	M1261V	NP_056013.2
XM_005271750.1	4002	Missense Mutation	ATG,GTG	M1333V	XP_005271807.1
XM_005271751.1	4002	Missense Mutation	ATG,GTG	M1318V	XP_005271808.1
XM_005271756.1	4002	Missense Mutation	ATG,GTG	M1214V	XP_005271813.1
XM_011515234.1	4002	Missense Mutation	ATG,GTG	M1358V	XP_011513536.1
XM_011515235.1	4002	Missense Mutation	ATG,GTG	M1343V	XP_011513537.1
XM_011515236.1	4002	Missense Mutation	ATG,GTG	M1311V	XP_011513538.1
XM_011515237.1	4002	Missense Mutation	ATG,GTG	M1301V	XP_011513539.1
XM_011515238.1	4002	Missense Mutation	ATG,GTG	M1270V	XP_011513540.1
XM_011515239.1	4002	Missense Mutation	ATG,GTG	M1254V	XP_011513541.1
XM_011515240.1	4002	Missense Mutation	ATG,GTG	M1239V	XP_011513542.1
XM_011515241.1	4002	Missense Mutation	ATG,GTG	M1047V	XP_011513543.1
XM_017011898.1	4002	Missense Mutation	ATG,GTG	M1276V	XP_016867387.1
XM_017011899.1	4002	Missense Mutation	ATG,GTG	M1230V	XP_016867388.1
XM_017011900.1	4002	Missense Mutation	ATG,GTG	M1173V	XP_016867389.1
XM_017011901.1	4002	Intron			XP_016867390.1

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