Product Details

SNP ID

rs149304497

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:55182127 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGCAGGACGTCCAGGGCAATGAG[A/G]GTTCCTGTGCGACCCACGCCAGCAC

Phenotype

MIM: 602510 MIM: 600782

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PTPRH PubMed Links

Gene Details

Gene

PTPRH

Gene Name

protein tyrosine phosphatase, receptor type H

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001161440.2	3181	Silent Mutation	ACC,ACT	T851T	NP_001154912.2
NM_002842.4	3181	Silent Mutation	ACC,ACT	T1029T	NP_002833.4
XM_011527183.1	3181	Silent Mutation	ACC,ACT	T1036T	XP_011525485.1
XM_011527188.1	3181	Silent Mutation	ACC,ACT	T842T	XP_011525490.1
XM_011527190.1	3181	Intron			XP_011525492.1
XM_017027056.1	3181	Silent Mutation	ACC,ACT	T1051T	XP_016882545.1
XM_017027057.1	3181	Silent Mutation	ACC,ACT	T1047T	XP_016882546.1
XM_017027058.1	3181	Silent Mutation	ACC,ACT	T1044T	XP_016882547.1
XM_017027059.1	3181	Silent Mutation	ACC,ACT	T1051T	XP_016882548.1
XM_017027060.1	3181	Silent Mutation	ACC,ACT	T1035T	XP_016882549.1
XM_017027061.1	3181	Silent Mutation	ACC,ACT	T873T	XP_016882550.1
XM_017027062.1	3181	Silent Mutation	ACC,ACT	T842T	XP_016882551.1
XM_017027063.1	3181	Silent Mutation	ACC,ACT	T842T	XP_016882552.1
XM_017027064.1	3181	Intron			XP_016882553.1

Gene

SYT5

Gene Name

synaptotagmin 5

There are no transcripts associated with this gene.

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