Product Details

SNP ID

rs144300885

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:50587252 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTTTTAAAATATTGTGATTTCAA[C/T]ATCTGCCTCCTGGCAAAAGACTTCT

Phenotype

MIM: 176885

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FAM65C PubMed Links

Gene Details

Gene

FAM65C

Gene Name

family with sequence similarity 65 member C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001290268.1	3235	Missense Mutation	ATT,GTT	I945V	NP_001277197.1
NM_080829.3	3235	Missense Mutation	ATT,GTT	I941V	NP_543019.2
XM_005260294.3	3235	Missense Mutation	ATT,GTT	I945V	XP_005260351.1
XM_006723713.3	3235	Missense Mutation	ATT,GTT	I940V	XP_006723776.1
XM_011528578.2	3235	Missense Mutation	ATT,GTT	I945V	XP_011526880.1
XM_011528579.2	3235	Missense Mutation	ATT,GTT	I941V	XP_011526881.1
XM_011528580.2	3235	Missense Mutation	ATT,GTT	I941V	XP_011526882.1
XM_011528581.2	3235	Missense Mutation	ATT,GTT	I941V	XP_011526883.1
XM_011528584.2	3235	Intron			XP_011526886.1
XM_011528585.2	3235	Missense Mutation	ATT,GTT	I608V	XP_011526887.1
XM_011528586.2	3235	Intron			XP_011526888.1
XM_017027681.1	3235	Missense Mutation	ATT,GTT	I715V	XP_016883170.1
XM_017027682.1	3235	Intron			XP_016883171.1

Gene

MIR645

Gene Name

microRNA 645

There are no transcripts associated with this gene.

Gene

PTPN1

Gene Name

protein tyrosine phosphatase, non-receptor type 1

There are no transcripts associated with this gene.

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